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.36G>A (p.Ala12=)

CA281921

40333 (ClinVar)

Gene: BRAF
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 37d415c0-90e7-425c-84bc-6361413d50aa
Approved on: 2017-04-18
Published on: 2018-12-10

HGVS expressions

NM_004333.4:c.36G>A
NM_004333.4(BRAF):c.36G>A (p.Ala12=)
NM_001354609.1:c.36G>A
NM_004333.5:c.36G>A
NR_148928.1:n.261G>A
ENST00000288602.10:c.36G>A
ENST00000469930.1:n.42G>A
NC_000007.14:g.140924668C>T
CM000669.2:g.140924668C>T
NC_000007.13:g.140624468C>T
CM000669.1:g.140624468C>T
NC_000007.12:g.140270937C>T
NG_007873.3:g.5097G>A

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.36G>A (p.Ala12=) variant in the BRAF gene is 0.116% (14/7290) of Latino 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.36G>A (p.Ala12=) variant in the BRAF gene is 0.116% (1/90) of Latino 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)
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