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.111G>A (p.Ser37=)

Curation History

CA175346

162804 (ClinVar)

Gene: BRAF

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 7e872ce6-f7c9-4c3d-a39e-8a174058fd77

Approved on: 2017-04-03

Published on: 2018-12-10

HGVS expressions

NM_004333.4:c.111G>A

NM_004333.4(BRAF):c.111G>A (p.Ser37=)

NC_000007.14:g.140924593C>T

CM000669.2:g.140924593C>T

NC_000007.13:g.140624393C>T

CM000669.1:g.140624393C>T

NC_000007.12:g.140270862C>T

NG_007873.3:g.5172G>A

NM_001354609.1:c.111G>A

NM_004333.5:c.111G>A

NR_148928.1:n.336G>A

ENST00000288602.10:c.111G>A

ENST00000469930.1:n.117G>A

ENST00000497784.1:n.66G>A

Likely Benign

BP5 BP7

Evidence Links 0

Expert Panel

RASopathy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

RASopathy VCEP

The c.111G>A (p.Ser37=) variant in BRAF is a synonymous (silent) variant at a nucleotide that is not highly conserved and is not predicted to impact splicing (BP7). This variant has been identified in a patient with an alternate molecular basis for disease (BP5; Partners LMM, GeneDx internal data, GTR ID's: SCV000197179.4, SCV000512270.5). In summary, this variant meets criteria to be classified as likely benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BP7, BP5.

BP5

This variant has been identified in a patient with an alternate molecular basis for disease (BP5; Partners LMM, GeneDx internal data, GTR ID's: SCV000197179.4, SCV000512270.5).

BP7

The c.111G>A (p.Ser37=) variant is a synonymous (silent) variant at a nucleotide that is not highly conserved and is not predicted to impact splicing (BP7).

Curation History

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