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

CA175333

162794 (ClinVar)

Gene: BRAF
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
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

Met criteria codes 2
BP7 BP4
Not Met criteria codes 2
PP2 PM2

Evidence Links 0

Expert Panel

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.
Met criteria codes
BP7
Intronic variant for which splicing is not predicted to be impacted, and the nucleotide is not highly conserved.
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.
Not Met criteria codes
PP2
Not applied because of contradiction with BP4 and BP7.
PM2
Present in 0.0008791% (1/113754) of non-Finnish European chromosomes in gnomAD v2; absent from gnomAD v3.
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