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NM_001354689.3(RAF1):c.913A>G (p.Ser305Gly)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Aug 17, 2021)
Last evaluated:
Nov 10, 2019
Accession:
VCV000263589.10
Variation ID:
263589
Description:
single nucleotide variant
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NM_001354689.3(RAF1):c.913A>G (p.Ser305Gly)

Allele ID
258290
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.2
Genomic location
3: 12600397 (GRCh38) GRCh38 UCSC
3: 12641896 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_413:g.68783A>G
LRG_413t2:c.913A>G LRG_413p2:p.Ser305Gly
LRG_413t1:c.853A>G LRG_413p1:p.Ser285Gly
... more HGVS
Protein change
S285G, S224G, S305G, S171G, S252G, S204G
Other names
-
Canonical SPDI
NC_000003.12:12600396:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00003
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00010
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
Links
ClinGen: CA2259660
dbSNP: rs150054973
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Sep 26, 2019 RCV000250580.1
Uncertain significance 1 criteria provided, single submitter Nov 10, 2019 RCV000477169.4
Uncertain significance 1 criteria provided, single submitter Aug 30, 2019 RCV001568261.3
Likely benign 1 no assertion criteria provided - RCV001261034.1
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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
Likely benign
(Sep 26, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000318570.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Uncertain significance
(Nov 10, 2019)
criteria provided, single submitter
Method: clinical testing
Rasopathy
Allele origin: germline
Invitae
Accession: SCV000552092.5
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces serine with glycine at codon 285 of the RAF1 protein (p.Ser285Gly). The serine residue is weakly conserved and there is a … (more)
Uncertain significance
(Aug 30, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001792103.1
Submitted: (Aug 17, 2021)
Evidence details
Comment:
Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 263589; … (more)
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
Noonan syndrome
Allele origin: maternal
Service de Génétique Moléculaire,Hôpital Robert Debré
Accession: SCV001438435.1
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 rs150054973...

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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 08, 2021