View genomic variant #0000016374

Chromosome	11
Allele	Unknown
Affects function (as reported)	Affects function
Affects function (by curator)	Affects function
Type	-
DNA change (genomic) (Relative to hg19 / GRCh37)	g.534288C>A
Published as	-
GERP	-
Segregation	-
DB-ID	HRAS_000001 See all 2 reported entries
MSCV	MSCV_0000271
dbSNP ID	-
Frequency	-
Sources	; clinvar;
Reference	-
Variant remarks	-
Genetic origin	-
Variant_disease	-
Average frequency (large NGS studies)	Variant not found in online data sets
Owner	LOVD

Variant on transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Affects function: The variant's effect on the protein's function, in the format 'R/C' where R is the value reported by the source and C is the value concluded by the curator; '+' indicating the variant affects function, '+?' probably affects function, '+*' affects function, not associated with individual's disease phenotype, '#' affects function, not associated with any known disease phenotype, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect not classified.

DNA change (cDNA): Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.

Protein: Description of variant at protein level (following HGVS recommendations).

p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced

GVS function: The functional annotation of this position from the Genome Variation Server.
All options:

intergenic
near-gene-5
utr-5
coding
coding-near-splice
coding-synonymous
coding-synonymous-near-splice
codingComplex
codingComplex-near-splice
frameshift
frameshift-near-splice
missense
missense-near-splice
splice-5
intron
splice-3
stop-gained
stop-gained-near-splice
stop-lost
stop-lost-near-splice
utr-3
near-gene-3

Position: Position of variant in coding DNA sequence; note that coding DNA position can also be derived from the variant description.

Exon: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.

PolyPhen: Effect of variant, predicted by PolyPhen.
All options:

benign = Benign
possiblyDamaging = Possibly damaging
probablyDamaging = Probably damaging
noPrediction = No prediction

RNA change: Description of variant at RNA level (following HGVS recommendations).

r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription

SIFT: SIFT Annotation

1 entry on 1 page. Showing entry 1.

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Gene	Transcript ID	Transcript	Variant ID	Affects function	DNA change (cDNA)	Protein	GVS function	Position	Exon	PolyPhen	RNA change	SIFT
HRAS	00003315	NM_176795.3	0000016374	./.	c.35G>T	p.(Gly12Val)	-	-	-	-	r.(?)	-

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ClinVar @ MSeqDR
RCVaccession	RCV000013431; RCV000013432; RCV000013433; RCV000032850; RCV000157912; RCV000428111; RCV000438340; RCV003415692; RCV003352749;
Chromosome	11:534288..534288
ClinVar Allele ID	27639
Disease database name and identifier	Human Phenotype Ontology:HP:0100031, MONDO:MONDO:0015074, MeSH:D013964, MedGen:C0040136, Orphanet:100087\|Human Phenotype Ontology:HP:0002861, Human Phenotype Ontology:HP:0002887, Human Phenotype Ontology:HP:0006777, Human Phenotype Ontology:HP:0007474, MONDO:MONDO:0005105, MeSH:D008545, MedGen:C0025202\|.\|MeSH:D030342, MedGen:C0950123\|MedGen:C3661900\|Human Phenotype Ontology:HP:0010816, MONDO:MONDO:0008093, MedGen:C0334082, OMIM:162900, Orphanet:79414\|MONDO:MONDO:0001187, MedGen:C0005684, OMIM:109800, Orphanet:157980\|MONDO:MONDO:0800299, MedGen:C1968782\|MONDO:MONDO:0009026, MedGen:C0587248, OMIM:218040, Orphanet:3071
ClinVar preferred disease name	Thyroid tumor\|Melanoma\|HRAS-related condition\|Inborn genetic diseases\|not provided\|Epidermal nevus\|Malignant tumor of urinary bladder\|Myopathy, congenital, with excess of muscle spindles\|Costello syndrome
HGVS variant names	NC 000011.9:g.534288C>A
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Pathogenic
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Variant clinical sources reported	ClinGen:CA122545\|OMIM:190020.0001\|UniProtKB:P01112#VAR 006836
Gene symbol:Gene id.	HRAS:3265\|LRRC56:115399
Molecular consequence	SO:0001583\|missense variant, SO:0001623\|5 prime UTR variant
Allele origin
dbSNP ID	104894230
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000013437; RCV000207503; RCV000417508; RCV000423413; RCV000423622; RCV000418547; RCV000425989; RCV000426130; RCV000422263; RCV000428375; RCV000423741; RCV000425511; RCV000430806; RCV000433266; RCV000428172; RCV000432956; RCV000435619; RCV000435805; RCV000433587; RCV00043;
Chromosome 11:534288..534288
ClinVar Allele ID 27642
Disease database name and identifier MONDO:MONDO:0020297, MedGen:C5681679, Orphanet:98733|Human Phenotype Ontology:HP:0100630, MONDO:MONDO:0005375, MeSH:D009303, MedGen:C0027439|MONDO:MONDO:0006046, MedGen:C0279663|Human Phenotype Ontology:HP:0033770, MONDO:MONDO:0005036, MedGen:C0278701|MONDO:MONDO:0006485, MedGen:C0280630|MeSH:C538614, MedGen:C1336078|Human Phenotype Ontology:HP:0032241, MONDO:MONDO:0021230, MeSH:D002583, MedGen:C0007873|MONDO:MONDO:0004971, MeSH:D003528, MedGen:C0010606|MONDO:MONDO:0005082, MedGen:C0007112|MedGen:C0153574|Human Phenotype Ontology:HP:0100031, MONDO:MONDO:0015074, MeSH:D013964, MedGen:C0040136, Orphanet:100087|Human Phenotype Ontology:HP:0100834, MONDO:MONDO:0005335, MeSH:D015179, MedGen:C0009404|MONDO:MONDO:0009026, MedGen:C0587248, OMIM:218040, Orphanet:3071|Human Phenotype Ontology:HP:0010816, MONDO:MONDO:0008093, MedGen:C0334082, OMIM:162900, Orphanet:79414|MONDO:MONDO:0008566, MedGen:C4225426, OMIM:188470|MONDO:MONDO:0001187, MedGen:C0005684, OMIM:109800, Orphanet:157980|Human Phenotype Ontology:HP:0010817, MONDO:MONDO:0008097, MedGen:C4552097, OMIM:163200, Orphanet:2612|Human Phenotype Ontology:HP:0005600, Human Phenotype Ontology:HP:0005604, MONDO:MONDO:0044792, MedGen:C1842036, OMIM:137550, Orphanet:626|MeSH:D030342, MedGen:C0950123|Human Phenotype Ontology:HP:0011459, MONDO:MONDO:0019086, MedGen:C0152018, Orphanet:70482|Human Phenotype Ontology:HP:0002859, MONDO:MONDO:0005212, MeSH:D012208, MedGen:C0035412, Orphanet:780|Human Phenotype Ontology:HP:0006725, MONDO:MONDO:0006047, MedGen:C0281361|Human Phenotype Ontology:HP:0010623, Human Phenotype Ontology:HP:0100013, MONDO:MONDO:0021100, MeSH:D001943, MedGen:C1458155|MONDO:MONDO:0018177, MeSH:D005909, MedGen:C0017636, Orphanet:360|MedGen:C3661900|MONDO:MONDO:0018881, MeSH:D009190, MedGen:C3463824, OMIM:614286, Orphanet:52688|Human Phenotype Ontology:HP:0001914, Human Phenotype Ontology:HP:0004808, Human Phenotype Ontology:HP:0004843, Human Phenotype Ontology:HP:0005516, Human Phenotype Ontology:HP:0006724, Human Phenotype Ontology:HP:0006728, MONDO:MONDO:0018874, MeSH:D015470, MedGen:C0023467, OMIM:601626, Orphanet:519|Human Phenotype Ontology:HP:0012056, MONDO:MONDO:0005012, MeSH:C562393, MedGen:C0151779|Human Phenotype Ontology:HP:0006775, MONDO:MONDO:0009693, MeSH:D009101, MedGen:C0026764, OMIM:254500, Orphanet:29073, Orphanet:85443|Human Phenotype Ontology:HP:0001402, Human Phenotype Ontology:HP:0002899, Human Phenotype Ontology:HP:0003007, Human Phenotype Ontology:HP:0006750, MONDO:MONDO:0007256, MedGen:C2239176, OMIM:114550, Orphanet:88673|Human Phenotype Ontology:HP:0030078, MONDO:MONDO:0005061, MeSH:D000077192, MedGen:C0152013|MONDO:MONDO:0010150, MeSH:D000077195, MedGen:C1168401, OMIM:275355, Orphanet:67037|Human Phenotype Ontology:HP:0006739, Human Phenotype Ontology:HP:0007614, MONDO:MONDO:0002529, MedGen:C0553723|Human Phenotype Ontology:HP:0006740, MONDO:MONDO:0005611, MedGen:C0279680
ClinVar preferred disease name Noonan syndrome and Noonan-related syndrome|Neoplasia of the nasopharynx|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Uterine carcinosarcoma|Papillary renal cell carcinoma, sporadic|Neoplasm of uterine cervix|Adenoid cystic carcinoma|Prostate adenocarcinoma|Malignant neoplasm of body of uterus|Thyroid tumor|Neoplasm of the large intestine|Costello syndrome|Epidermal nevus|Thyroid cancer, nonmedullary, 2|Malignant tumor of urinary bladder|Linear nevus sebaceous syndrome|Large congenital melanocytic nevus|Inborn genetic diseases|Esophageal carcinoma|Rhabdomyosarcoma|Pancreatic adenocarcinoma|Breast neoplasm|Glioblastoma|not provided|Myelodysplastic syndrome|Acute myeloid leukemia|Malignant melanoma of skin|Multiple myeloma|Hepatocellular carcinoma|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Squamous cell carcinoma of the skin|Transitional cell carcinoma of the bladder
HGVS variant names NC 000011.9:g.534288C>G
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA256486|OMIM:190020.0004|UniProtKB:P01112#VAR 026106
Gene symbol:Gene id. HRAS:3265|LRRC56:115399
Molecular consequence SO:0001583|missense variant, SO:0001623|5 prime UTR variant
Allele origin
dbSNP ID 104894230
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000013446; RCV000029210; RCV000038460; RCV000149830; RCV000212496; RCV000429375; RCV001255681; RCV001375956; RCV001813189;
Chromosome 11:534288..534288
ClinVar Allele ID 27651
Disease database name and identifier MONDO:MONDO:0020297, MedGen:C5681679, Orphanet:98733|MONDO:MONDO:0023644, MedGen:C0220641|Human Phenotype Ontology:HP:0010623, Human Phenotype Ontology:HP:0100013, MONDO:MONDO:0021100, MeSH:D001943, MedGen:C1458155|MedGen:C3661900|MONDO:MONDO:0021060, MedGen:C5555857, Orphanet:536391|Human Phenotype Ontology:HP:0001790, MONDO:MONDO:0009369, MedGen:C0455988, OMIM:236750, Orphanet:363999|Human Phenotype Ontology:HP:0010815, MedGen:C3854181|MONDO:MONDO:0009026, MedGen:C0587248, OMIM:218040, Orphanet:3071|MedGen:C4016398
ClinVar preferred disease name Noonan syndrome and Noonan-related syndrome|Lip and oral cavity carcinoma|Breast neoplasm|not provided|RASopathy|Non-immune hydrops fetalis|Nevus sebaceous|Costello syndrome|Costello syndrome, severe
HGVS variant names NC 000011.9:g.534288C>T
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic/Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA122555|OMIM:190020.0013|UniProtKB:P01112#VAR 068816
Gene symbol:Gene id. HRAS:3265|LRRC56:115399
Molecular consequence SO:0001583|missense variant, SO:0001623|5 prime UTR variant
Allele origin
dbSNP ID 104894230
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None