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

Variant: NM_004333.4(BRAF):c.1332G>A (p.Arg444=)

CA135067

40362 (ClinVar)

Gene: BRAF
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: ffcded9c-7ba2-44bb-9809-17cef8005944

HGVS expressions

NM_004333.4:c.1332G>A
NM_004333.4(BRAF):c.1332G>A (p.Arg444=)
NM_001354609.1:c.1332G>A
NM_004333.5:c.1332G>A
NR_148928.1:n.1637G>A
ENST00000288602.10:c.1332G>A
ENST00000496384.6:n.155G>A
ENST00000497784.1:n.1367G>A
NC_000007.14:g.140781676C>T
CM000669.2:g.140781676C>T
NC_000007.13:g.140481476C>T
CM000669.1:g.140481476C>T
NC_000007.12:g.140127945C>T
NG_007873.3:g.148089G>A

Benign

Met criteria codes 1
BA1

Expert Panel

Evidence Links 0

Evidence submitted by expert panel
RASopathy VCEP
The filtering allele frequency of the c.1332G>A (p.Arg444=) variant in the BRAF gene is 0.077% (64/66708) of European 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.1332G>A (p.Arg444=) variant in the BRAF gene is 0.077% (64/66708) of European 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)
Approved on: 2017-04-18
Published on: 2018-12-10
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