12-123933342-C-T
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_001372106.1(DNAH10):c.13308C>T(p.Ser4436Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.301 in 1,572,818 control chromosomes in the GnomAD database, including 72,802 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001372106.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH10 | NM_001372106.1 | c.13308C>T | p.Ser4436Ser | synonymous_variant | Exon 77 of 79 | ENST00000673944.1 | NP_001359035.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH10 | ENST00000673944.1 | c.13308C>T | p.Ser4436Ser | synonymous_variant | Exon 77 of 79 | NM_001372106.1 | ENSP00000501095.1 |
Frequencies
GnomAD3 genomes AF: 0.303 AC: 46013AN: 151996Hom.: 7062 Cov.: 33
GnomAD3 exomes AF: 0.276 AC: 60043AN: 217258Hom.: 8616 AF XY: 0.277 AC XY: 32849AN XY: 118510
GnomAD4 exome AF: 0.300 AC: 426778AN: 1420704Hom.: 65737 Cov.: 34 AF XY: 0.299 AC XY: 210179AN XY: 703514
GnomAD4 genome AF: 0.303 AC: 46042AN: 152114Hom.: 7065 Cov.: 33 AF XY: 0.297 AC XY: 22095AN XY: 74378
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 -
DNAH10-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at