NM_133510.4:c.1036+5G>A
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP6BS2
The NM_133510.4(RAD51B):c.1036+5G>A variant causes a splice region, intron change. The variant allele was found at a frequency of 0.000435 in 1,609,584 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_133510.4 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000434 AC: 66AN: 152186Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000473 AC: 119AN: 251422Hom.: 0 AF XY: 0.000478 AC XY: 65AN XY: 135874
GnomAD4 exome AF: 0.000435 AC: 634AN: 1457280Hom.: 0 Cov.: 30 AF XY: 0.000427 AC XY: 310AN XY: 725176
GnomAD4 genome AF: 0.000433 AC: 66AN: 152304Hom.: 0 Cov.: 32 AF XY: 0.000443 AC XY: 33AN XY: 74490
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1036+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 9 in the RAD51B gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. -
Hereditary cancer-predisposing syndrome Uncertain:1
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not provided Benign:1
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Hereditary cancer Benign:1
This variant is considered likely benign or benign based on one or more of the following: it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease, and/or has normal protein function, and/or has lack of segregation with disease, and/or has been detected in co-occurrence with known pathogenic variant, and/or has lack of disease association in case-control studies, and/or is located in a region inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at