rs397516884
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_001374258.1(BRAF):c.1040G>T(p.Arg347Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R347P) has been classified as Uncertain significance.
Frequency
Consequence
NM_001374258.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BRAF | NM_001374258.1 | c.1040G>T | p.Arg347Leu | missense_variant | 8/20 | ENST00000644969.2 | |
BRAF | NM_004333.6 | c.1040G>T | p.Arg347Leu | missense_variant | 8/18 | ENST00000646891.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BRAF | ENST00000644969.2 | c.1040G>T | p.Arg347Leu | missense_variant | 8/20 | NM_001374258.1 | |||
BRAF | ENST00000646891.2 | c.1040G>T | p.Arg347Leu | missense_variant | 8/18 | NM_004333.6 | P4 | ||
ENST00000700122.1 | n.626C>A | non_coding_transcript_exon_variant | 3/4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.