chr14-67823568-G-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_133510.4(RAD51B):c.25G>A(p.Val9Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000752 in 1,613,716 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_133510.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RAD51B | NM_133510.4 | c.25G>A | p.Val9Met | missense_variant | 2/11 | ENST00000471583.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RAD51B | ENST00000471583.6 | c.25G>A | p.Val9Met | missense_variant | 2/11 | 1 | NM_133510.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.00417 AC: 634AN: 152070Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00113 AC: 284AN: 251266Hom.: 0 AF XY: 0.000810 AC XY: 110AN XY: 135794
GnomAD4 exome AF: 0.000397 AC: 580AN: 1461528Hom.: 2 Cov.: 30 AF XY: 0.000340 AC XY: 247AN XY: 727070
GnomAD4 genome AF: 0.00417 AC: 634AN: 152188Hom.: 2 Cov.: 32 AF XY: 0.00393 AC XY: 292AN XY: 74382
ClinVar
Submissions by phenotype
Hereditary cancer-predisposing syndrome Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | GeneKor MSA | Aug 01, 2018 | - - |
Hereditary breast ovarian cancer syndrome Benign:1
Likely benign, criteria provided, single submitter | clinical testing | National Health Laboratory Service, Universitas Academic Hospital and University of the Free State | Apr 19, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at