rs606231228
Variant summary
Our verdict is Pathogenic. Variant got 21 ACMG points: 21P and 0B. PS1_Very_StrongPM1PM2PM5PP2PP3_StrongPP5_Moderate
The NM_001374258.1(BRAF):c.1713G>T(p.Trp571Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (★). Another nucleotide change resulting in same amino acid change has been previously reported as Pathogenicin ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. W571R) has been classified as Pathogenic.
Frequency
Consequence
NM_001374258.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BRAF | NM_001374258.1 | c.1713G>T | p.Trp571Cys | missense_variant | 14/20 | ENST00000644969.2 | |
BRAF | NM_004333.6 | c.1593G>T | p.Trp531Cys | missense_variant | 13/18 | ENST00000646891.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BRAF | ENST00000644969.2 | c.1713G>T | p.Trp571Cys | missense_variant | 14/20 | NM_001374258.1 | |||
BRAF | ENST00000646891.2 | c.1593G>T | p.Trp531Cys | missense_variant | 13/18 | NM_004333.6 | P4 | ||
ENST00000700122.1 | n.502+2145C>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not provided Pathogenic:1
Pathogenic, criteria provided, single submitter | clinical testing | GeneDx | Dec 15, 2022 | Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23093928, 26633542, 24957944, 15488754, 16439621, 15520807, 17603483, 29493581, 30290804, 19206169, 33644862, 33040082) - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at