rs56002041
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_015512.5(DNAH1):c.7151A>G(p.Asn2384Ser) variant causes a missense change. The variant allele was found at a frequency of 0.109 in 1,612,530 control chromosomes in the GnomAD database, including 10,807 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_015512.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH1 | NM_015512.5 | c.7151A>G | p.Asn2384Ser | missense_variant | Exon 45 of 78 | ENST00000420323.7 | NP_056327.4 | |
DNAH1 | XM_017006129.2 | c.7220A>G | p.Asn2407Ser | missense_variant | Exon 47 of 80 | XP_016861618.1 | ||
DNAH1 | XM_017006130.2 | c.7151A>G | p.Asn2384Ser | missense_variant | Exon 46 of 79 | XP_016861619.1 | ||
DNAH1 | XM_017006131.2 | c.7220A>G | p.Asn2407Ser | missense_variant | Exon 47 of 79 | XP_016861620.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0779 AC: 11851AN: 152166Hom.: 617 Cov.: 32
GnomAD3 exomes AF: 0.0836 AC: 20628AN: 246688Hom.: 1040 AF XY: 0.0848 AC XY: 11357AN XY: 133862
GnomAD4 exome AF: 0.112 AC: 163898AN: 1460246Hom.: 10191 Cov.: 32 AF XY: 0.111 AC XY: 80613AN XY: 726340
GnomAD4 genome AF: 0.0778 AC: 11847AN: 152284Hom.: 616 Cov.: 32 AF XY: 0.0751 AC XY: 5592AN XY: 74474
ClinVar
Submissions by phenotype
not provided Benign:2
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Spermatogenic failure 18;C4539798:Ciliary dyskinesia, primary, 37 Benign:1
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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 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at