View genomic variant #0000000069

Chromosome	1
Allele	Unknown
Affects function (as reported)	Affects function
Affects function (by curator)	Affects function
Type	subst
DNA change (genomic) (Relative to hg19 / GRCh37)	g.115258747C>T
Published as	-
GERP	5.580
Segregation	-
DB-ID	NRAS_000003
MSCV	MSCV_0000069
dbSNP ID	-
Frequency	-
Sources	;
Reference	-
Variant remarks	-
Genetic origin	-
Variant_disease	-
Average frequency (large NGS studies)	8.0E-5 View details
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.

Legend

Gene	Transcript ID	Transcript	Variant ID	Affects function	DNA change (cDNA)	Protein	GVS function	Position	Exon	PolyPhen	RNA change	SIFT
NRAS	00003322	NM_002524.4	0000000069	?/?	c.35G>A	p.(Gly12Asp)	missense_variant	-	2/7	possibly_damaging(0.726)	r.(?)	deleterious(0)

Legend

ClinVar @ MSeqDR
RCVaccession	RCV000037576; RCV000158986; RCV000421072; RCV000423890; RCV000432178; RCV000419124; RCV000429393; RCV000438750; RCV000438967; RCV000439421; RCV001377735;
Chromosome	1:115258747..115258747
ClinVar Allele ID	48940
Disease database name and identifier	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\|Human Phenotype Ontology:HP:0033770, MONDO:MONDO:0005036, MedGen:C0278701\|MedGen:C0153574\|Human Phenotype Ontology:HP:0100834, MONDO:MONDO:0005335, MeSH:D015179, MedGen:C0009404\|MedGen:C3661900\|MONDO:MONDO:0021060, MedGen:C5555857, Orphanet:536391\|Human Phenotype Ontology:HP:0006775, MONDO:MONDO:0009693, MeSH:D009101, MedGen:C0026764, OMIM:254500, Orphanet:29073, Orphanet:85443\|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\|MONDO:MONDO:0018881, MeSH:D009190, MedGen:C3463824, OMIM:614286, Orphanet:52688\|MONDO:MONDO:0018997, MeSH:D009634, MedGen:C0028326, OMIM:PS163950, Orphanet:648\|Human Phenotype Ontology:HP:0012056, MONDO:MONDO:0005012, MeSH:C562393, MedGen:C0151779
ClinVar preferred disease name	Melanoma\|Gastric adenocarcinoma\|Malignant neoplasm of body of uterus\|Neoplasm of the large intestine\|not provided\|RASopathy\|Multiple myeloma\|Acute myeloid leukemia\|Myelodysplastic syndrome\|Noonan syndrome\|Malignant melanoma of skin
HGVS variant names	NC 000001.10:g.115258747C>A
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:CA261525
Gene symbol:Gene id.	NRAS:4893
Molecular consequence	SO:0001583\|missense variant
Allele origin
dbSNP ID	121913237
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000203450; RCV000380895; RCV000418647; RCV000426950; RCV000427550; RCV000434113; RCV000433455; RCV000425963; RCV000444591; RCV000437165; RCV000444670; RCV001324275; RCV001813426;
Chromosome 1:115258747..115258747
ClinVar Allele ID 216786
Disease database name and identifier MONDO:MONDO:0020297, MedGen:C5681679, Orphanet:98733|Human Phenotype Ontology:HP:0030358, MONDO:MONDO:0005233, MeSH:D002289, MedGen:C0007131|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|Human Phenotype Ontology:HP:0006775, MONDO:MONDO:0009693, MeSH:D009101, MedGen:C0026764, OMIM:254500, Orphanet:29073, Orphanet:85443|Human Phenotype Ontology:HP:0100834, MONDO:MONDO:0005335, MeSH:D015179, MedGen:C0009404|MedGen:C3661900|MONDO:MONDO:0021060, MedGen:C5555857, Orphanet:536391|Human Phenotype Ontology:HP:0012056, MONDO:MONDO:0005012, MeSH:C562393, MedGen:C0151779|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|MedGen:C0153574|Human Phenotype Ontology:HP:0033770, MONDO:MONDO:0005036, MedGen:C0278701|MedGen:CN234857
ClinVar preferred disease name Noonan syndrome and Noonan-related syndrome|Non-small cell lung carcinoma|Melanoma|Multiple myeloma|Neoplasm of the large intestine|not provided|RASopathy|Malignant melanoma of skin|Myelodysplastic syndrome|Acute myeloid leukemia|Malignant neoplasm of body of uterus|Gastric adenocarcinoma|Myelodysplastic syndrome progressed to acute myeloid leukemia
HGVS variant names NC 000001.10:g.115258747C>G
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:CA280928
Gene symbol:Gene id. NRAS:4893
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 121913237
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000032849; RCV000144963; RCV000158980; RCV000417702; RCV000417869; RCV000430706; RCV000436228; RCV000439064; RCV000424239; RCV000440963; RCV000427949; RCV000434517; RCV001781333; RCV001813214; RCV001852659; RCV003415756; RCV003221788;
Chromosome 1:115258747..115258747
Allele frequencies from ESP 0.00008
Allele frequencies from ExAC 0.00001
ClinVar Allele ID 48247
Disease database name and identifier MONDO:MONDO:0020297, MedGen:C5681679, Orphanet:98733|MedGen:C0153574|Human Phenotype Ontology:HP:0033770, MONDO:MONDO:0005036, MedGen:C0278701|Human Phenotype Ontology:HP:0100834, MONDO:MONDO:0005335, MeSH:D015179, MedGen:C0009404|MedGen:C3661900|MONDO:MONDO:0021060, MedGen:C5555857, Orphanet:536391|MONDO:MONDO:0018881, MeSH:D009190, MedGen:C3463824, OMIM:614286, Orphanet:52688|Human Phenotype Ontology:HP:0006775, MONDO:MONDO:0009693, MeSH:D009101, MedGen:C0026764, OMIM:254500, Orphanet:29073, Orphanet:85443|Human Phenotype Ontology:HP:0012056, MONDO:MONDO:0005012, MeSH:C562393, MedGen:C0151779|Human Phenotype Ontology:HP:0010816, MONDO:MONDO:0008093, MedGen:C0334082, OMIM:162900, Orphanet:79414|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:0030358, MONDO:MONDO:0005233, MeSH:D002289, MedGen:C0007131|MONDO:MONDO:0013767, MedGen:C2674723, OMIM:614470, Orphanet:268114|MONDO:MONDO:0013186, MedGen:C2750732, OMIM:613224, Orphanet:648|Human Phenotype Ontology:HP:0012209, MONDO:MONDO:0011908, MedGen:C0349639, OMIM:607785, Orphanet:86834|.|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
ClinVar preferred disease name Noonan syndrome and Noonan-related syndrome|Malignant neoplasm of body of uterus|Gastric adenocarcinoma|Neoplasm of the large intestine|not provided|RASopathy|Myelodysplastic syndrome|Multiple myeloma|Malignant melanoma of skin|Epidermal nevus|Acute myeloid leukemia|Non-small cell lung carcinoma|Autoimmune lymphoproliferative syndrome type 4|Noonan syndrome 6|Juvenile myelomonocytic leukemia|NRAS-related condition|Melanoma
HGVS variant names NC 000001.10:g.115258747C>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:CA130425|OMIM:164790.0007|UniProtKB:P01111#VAR 071129
Gene symbol:Gene id. NRAS:4893
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 121913237
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