rs71645936
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001374258.1(BRAF):c.-5A>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000363 in 825,992 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001374258.1 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BRAF | NM_001374258.1 | c.-5A>T | 5_prime_UTR_variant | 1/20 | ENST00000644969.2 | ||
BRAF | NM_004333.6 | c.-5A>T | 5_prime_UTR_variant | 1/18 | ENST00000646891.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BRAF | ENST00000644969.2 | c.-5A>T | 5_prime_UTR_variant | 1/20 | NM_001374258.1 | ||||
BRAF | ENST00000646891.2 | c.-5A>T | 5_prime_UTR_variant | 1/18 | NM_004333.6 | P4 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.0000202 AC: 2AN: 98852Hom.: 0 AF XY: 0.0000180 AC XY: 1AN XY: 55436
GnomAD4 exome AF: 0.00000363 AC: 3AN: 825992Hom.: 0 Cov.: 11 AF XY: 0.00000234 AC XY: 1AN XY: 427612
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at