8-144103543-C-T
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBA1
The NM_030974.4(SHARPIN):c.201+10G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.911 in 1,531,116 control chromosomes in the GnomAD database, including 637,283 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_030974.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.865 AC: 131596AN: 152136Hom.: 57694 Cov.: 35
GnomAD3 exomes AF: 0.926 AC: 116966AN: 126264Hom.: 54369 AF XY: 0.929 AC XY: 64244AN XY: 69122
GnomAD4 exome AF: 0.916 AC: 1262979AN: 1378866Hom.: 579568 Cov.: 44 AF XY: 0.918 AC XY: 624576AN XY: 680234
GnomAD4 genome AF: 0.865 AC: 131670AN: 152250Hom.: 57715 Cov.: 35 AF XY: 0.869 AC XY: 64661AN XY: 74436
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at