Evidence Repository - Clinical Genome Resources

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

Variant: NM_004333.4(BRAF):c.483G>C (p.Leu161=)

Curation History

CA135128

44826 (ClinVar)

Gene: BRAF

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 4fcbc6a6-a933-4864-9c77-53427914f590

Approved on: 2017-04-18

Published on: 2018-12-10

HGVS expressions

NM_004333.4:c.483G>C

NM_004333.4(BRAF):c.483G>C (p.Leu161=)

NC_000007.14:g.140834630C>G

CM000669.2:g.140834630C>G

NC_000007.13:g.140534430C>G

CM000669.1:g.140534430C>G

NC_000007.12:g.140180899C>G

NG_007873.3:g.95135G>C

NM_001354609.1:c.483G>C

NM_004333.5:c.483G>C

NR_148928.1:n.708G>C

ENST00000288602.10:c.483G>C

ENST00000469930.1:n.489G>C

ENST00000497784.1:n.438G>C

Likely Benign

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Insufficient Evidence"

BS1

Evidence Links 0

Expert Panel

RASopathy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

RASopathy VCEP

The filtering allele frequency of the c.483G>C (p.Leu161=) variant in the BRAF gene is 0.0315% (7/10404) of African chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581)

BS1

Curation History

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