5-75611813-C-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001276713.2(ANKDD1B):c.179C>A(p.Ala60Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00322 in 1,231,902 control chromosomes in the GnomAD database, including 76 homozygotes. In-silico tool predicts a benign outcome for this variant. 10/14 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001276713.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0142 AC: 2163AN: 152132Hom.: 45 Cov.: 31
GnomAD4 exome AF: 0.00168 AC: 1811AN: 1079652Hom.: 31 Cov.: 31 AF XY: 0.00167 AC XY: 850AN XY: 509698
GnomAD4 genome AF: 0.0142 AC: 2160AN: 152250Hom.: 45 Cov.: 31 AF XY: 0.0139 AC XY: 1033AN XY: 74424
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at