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_004333.6(BRAF):c.*7T>C

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA175333

162794 (ClinVar)

Gene: BRAF

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 2ef3ac75-0c28-418a-bd51-29b5015441de

Approved on: 2020-01-31

Published on: 2020-01-31

HGVS expressions

NM_004333.6:c.*7T>C

NM_004333.6(BRAF):c.*7T>C

NC_000007.14:g.140734590A>G

CM000669.2:g.140734590A>G

NC_000007.13:g.140434390A>G

CM000669.1:g.140434390A>G

NC_000007.12:g.140080859A>G

NG_007873.3:g.195175T>C

NM_004333.4:c.*7T>C

NM_001354609.1:c.2281+27T>C

NM_004333.5:c.*7T>C

NR_148928.1:n.3406T>C

NM_001354609.2:c.2281+27T>C

NM_001374244.1:c.*7T>C

NM_001374258.1:c.2401+27T>C

ENST00000288602.10:c.*7T>C

ENST00000479537.5:n.674T>C

ENST00000496384.6:n.1104+27T>C

Likely Benign

BP4 BP7

PM2 PP2

Evidence Links 0

Expert Panel

RASopathy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

RASopathy VCEP

The c.*7T>C variant in the 3' UTR of BRAF is classified as likely benign because it occurs in a noncoding region, computational splice analyses do not predict an impact on splicing, and Alamut indicates that this nucleotide is not highly conserved (BP4, BP7). It has been identified in 0.0008791% (1/113754) of non-Finnish European chromosomes in gnomAD v2. RASopathy-specific ACMG/AMP Criteria applied (PMID:29493581): BP4, BP7.

BP4

Splicing is not predicted to be impacted in Alamut. REVEL score not available for intronic variants. Alamut indicates that this nucleotide is not highly conserved.

BP7

Intronic variant for which splicing is not predicted to be impacted, and the nucleotide is not highly conserved.

PM2

Present in 0.0008791% (1/113754) of non-Finnish European chromosomes in gnomAD v2; absent from gnomAD v3.

PP2

Not applied because of contradiction with BP4 and BP7.

Curation History

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