rs200538950
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BS1BS2
The NM_001142571.2(RAD51D):c.159C>T(p.His53His) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000103 in 1,613,076 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001142571.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000408 AC: 62AN: 152110Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000173 AC: 43AN: 248150Hom.: 0 AF XY: 0.000111 AC XY: 15AN XY: 134810
GnomAD4 exome AF: 0.0000712 AC: 104AN: 1460848Hom.: 1 Cov.: 31 AF XY: 0.0000619 AC XY: 45AN XY: 726588
GnomAD4 genome AF: 0.000407 AC: 62AN: 152228Hom.: 0 Cov.: 32 AF XY: 0.000443 AC XY: 33AN XY: 74414
ClinVar
Submissions by phenotype
RAD51D-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Hereditary cancer-predisposing syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at