The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computed assertion could be determined for this classification!


Variant: NM_004333.6(BRAF):c.92C>G (p.Ala31Gly)

CA135146

44833 (ClinVar)

Gene: BRAF
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 2c995b09-a4bb-4aac-a4ff-9717ea5fe648
Approved on: 2024-09-17
Published on: 2024-10-01

HGVS expressions

NM_004333.6:c.92C>G
NM_004333.6(BRAF):c.92C>G (p.Ala31Gly)
NC_000007.14:g.140924612G>C
CM000669.2:g.140924612G>C
NC_000007.13:g.140624412G>C
CM000669.1:g.140624412G>C
NC_000007.12:g.140270881G>C
NG_007873.3:g.5153C>G
ENST00000646891.2:c.92C>G
ENST00000288602.11:c.92C>G
ENST00000469930.2:c.92C>G
ENST00000496384.7:c.92C>G
ENST00000497784.2:c.92C>G
ENST00000642228.1:c.92C>G
ENST00000642272.1:n.115C>G
ENST00000642808.1:n.92C>G
ENST00000643790.1:n.95C>G
ENST00000644905.1:n.101C>G
ENST00000644969.2:c.92C>G
ENST00000646730.1:c.92C>G
ENST00000646891.1:c.92C>G
ENST00000288602.10:c.92C>G
ENST00000469930.1:n.98C>G
ENST00000497784.1:c.47C>G
NM_004333.4:c.92C>G
NM_001354609.1:c.92C>G
NM_004333.5:c.92C>G
NR_148928.1:n.317C>G
NM_001354609.2:c.92C>G
NM_001374244.1:c.92C>G
NM_001374258.1:c.92C>G
NM_001378467.1:c.92C>G
NM_001378468.1:c.92C>G
NM_001378469.1:c.92C>G
NM_001378470.1:c.92C>G
NM_001378471.1:c.92C>G
NM_001378474.1:c.92C>G
NM_001378475.1:c.92C>G
More

Likely Benign

Met criteria codes 2
BS2 BP4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRAF Version 2.1.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
RASopathy VCEP
The c.92C>G variant in the BRAF gene is a missense variant predicted to cause substitution of alanine by glycine at amino acid 31 (p.Ala31Gly). The minor allele frequency in gnomAD v4 of this variant is 0.01119% (128/1143560 alleles) for the European (non-Finnish) population (PM2_Supporting/BS1/BA1 are not met). The REVEL computational prediction analysis tool produced a score of 0.207, which meets the threshold for BP4 application. This variant has been identified in at least 1 individual with clinical features of a RASopathy (PS4 not met; Partners LMM internal data; GTR ID's 21766; SCV000061629.5). However, the p.Ala31Gly variant was observed in at least one healthy adult individual who did not have clinical features of a RASopathy (BS2; Partners LMM and GeneDx internal data; GTR ID's 21766, 26957; SCV000061629.5, SCV000207745.9). In summary, this variant meets criteria to be classified as likely benign for autosomal dominant RASopathies based on the ACMG/AMP criteria applied, as specified by the ClinGen RASopathy Variant Curation Expert Panel: BS2, BP4 (Specification Version 2.1, 9/17/2024)
Met criteria codes
BS2
The p.Ala31Gly variant was observed in at least one healthy adult individual who did not have clinical features of a RASopathy (BS2; Partners LMM and GeneDx internal data; GTR ID's 21766, 26957; SCV000061629.5, SCV000207745.9).
BP4
Computational prediction tools and conservation analysis suggest that the p.Ala31Gly variant does not impact the protein (BP4).
Curation History
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.