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NM_001354689.3(RAF1):c.293T>C (p.Val98Ala)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 30, 2020)
Last evaluated:
May 10, 2017
Accession:
VCV000280524.5
Variation ID:
280524
Description:
single nucleotide variant
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NM_001354689.3(RAF1):c.293T>C (p.Val98Ala)

Allele ID
264131
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.2
Genomic location
3: 12611977 (GRCh38) GRCh38 UCSC
3: 12653476 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_413:g.57203T>C
LRG_413t2:c.293T>C LRG_413p2:p.Val98Ala
LRG_413t1:c.293T>C LRG_413p1:p.Val98Ala
... more HGVS
Protein change
V98A
Other names
-
Canonical SPDI
NC_000003.12:12611976:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA2259798
dbSNP: rs763559779
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 22, 2016 RCV000286444.1
Uncertain significance 1 criteria provided, single submitter May 10, 2017 RCV000619047.1
Likely benign 1 no assertion criteria provided - RCV001261027.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RAF1 No evidence available No evidence available GRCh38
GRCh37
566 619

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 22, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000330448.7
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The V98A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was … (more)
Uncertain significance
(May 10, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000740153.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.V98A variant (also known as c.293T>C), located in coding exon 2 of the RAF1 gene, results from a T to C substitution at nucleotide … (more)
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
Noonan syndrome
Allele origin: maternal
Service de Génétique Moléculaire,Hôpital Robert Debré
Accession: SCV001438425.1
Submitted: (Mar 26, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs763559779...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021