chr3-52394972-C-A
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BA1
The NM_015512.5(DNAH1):c.10881C>A(p.Val3627Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.108 in 1,612,930 control chromosomes in the GnomAD database, including 10,647 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_015512.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH1 | NM_015512.5 | c.10881C>A | p.Val3627Val | synonymous_variant | Exon 68 of 78 | ENST00000420323.7 | NP_056327.4 | |
DNAH1 | XM_017006129.2 | c.10950C>A | p.Val3650Val | synonymous_variant | Exon 70 of 80 | XP_016861618.1 | ||
DNAH1 | XM_017006130.2 | c.10881C>A | p.Val3627Val | synonymous_variant | Exon 69 of 79 | XP_016861619.1 | ||
DNAH1 | XM_017006131.2 | c.10824C>A | p.Val3608Val | synonymous_variant | Exon 69 of 79 | XP_016861620.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0770 AC: 11716AN: 152194Hom.: 614 Cov.: 32
GnomAD3 exomes AF: 0.0832 AC: 20532AN: 246738Hom.: 1036 AF XY: 0.0845 AC XY: 11320AN XY: 134014
GnomAD4 exome AF: 0.111 AC: 162647AN: 1460618Hom.: 10034 Cov.: 33 AF XY: 0.110 AC XY: 79981AN XY: 726502
GnomAD4 genome AF: 0.0769 AC: 11712AN: 152312Hom.: 613 Cov.: 32 AF XY: 0.0741 AC XY: 5522AN XY: 74476
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