rs3617
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_002217.4(ITIH3):c.943C>A(p.Gln315Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.466 in 1,612,218 control chromosomes in the GnomAD database, including 179,023 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_002217.4 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: 0.535 AC: 81217AN: 151912Hom.: 22790 Cov.: 33
GnomAD3 exomes AF: 0.479 AC: 118451AN: 247344Hom.: 29448 AF XY: 0.466 AC XY: 62521AN XY: 134148
GnomAD4 exome AF: 0.459 AC: 669504AN: 1460190Hom.: 156199 Cov.: 40 AF XY: 0.454 AC XY: 329916AN XY: 726328
GnomAD4 genome AF: 0.535 AC: 81309AN: 152028Hom.: 22824 Cov.: 33 AF XY: 0.531 AC XY: 39453AN XY: 74318
ClinVar
Submissions by phenotype
not provided Benign:2
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This variant is associated with the following publications: (PMID: 32712163) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at