The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

  • See Evidence submitted by expert panel for details.

Variant: NM_004333.4(BRAF):c.1068A>G (p.Gln356=)

CA135028

44788 (ClinVar)

Gene: BRAF
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 701249a7-0946-42fa-a856-c7089a0251c6
Approved on: 2017-04-18
Published on: 2018-12-10

HGVS expressions

NM_004333.4:c.1068A>G
NM_004333.4(BRAF):c.1068A>G (p.Gln356=)
NC_000007.14:g.140794380T>C
CM000669.2:g.140794380T>C
NC_000007.13:g.140494180T>C
CM000669.1:g.140494180T>C
NC_000007.12:g.140140649T>C
NG_007873.3:g.135385A>G
NM_001354609.1:c.1068A>G
NM_004333.5:c.1068A>G
NR_148928.1:n.1373A>G
ENST00000288602.10:c.1068A>G
ENST00000497784.1:n.1103A>G
More

Benign

Met criteria codes 1
BA1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
RASopathy VCEP
The filtering allele frequency of the c.1068A>G (p.Gln356=) variant in the BRAF gene is 0.115% (27/16512) of South Asian chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
Met criteria codes
BA1
The filtering allele frequency of the c.1068A>G (p.Gln356=) variant in the BRAF gene is 0.115% (27/16512) of South Asian chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
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.