chr14-67835204-A-G
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_133510.4(RAD51B):c.315+8A>G variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000262 in 1,599,720 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_133510.4 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RAD51B | NM_133510.4 | c.315+8A>G | splice_region_variant, intron_variant | ENST00000471583.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RAD51B | ENST00000471583.6 | c.315+8A>G | splice_region_variant, intron_variant | 1 | NM_133510.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.00135 AC: 206AN: 152196Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000337 AC: 84AN: 249228Hom.: 0 AF XY: 0.000171 AC XY: 23AN XY: 134638
GnomAD4 exome AF: 0.000146 AC: 211AN: 1447406Hom.: 0 Cov.: 30 AF XY: 0.000117 AC XY: 84AN XY: 720786
GnomAD4 genome AF: 0.00137 AC: 208AN: 152314Hom.: 0 Cov.: 32 AF XY: 0.00146 AC XY: 109AN XY: 74470
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 20, 2018 | - - |
Hereditary breast ovarian cancer syndrome Benign:1
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