NM_001372.4:c.1810A>G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001372.4(DNAH9):āc.1810A>Gā(p.Met604Val) variant causes a missense change. The variant allele was found at a frequency of 0.0257 in 1,613,072 control chromosomes in the GnomAD database, including 689 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_001372.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH9 | ENST00000262442.9 | c.1810A>G | p.Met604Val | missense_variant | Exon 10 of 69 | 1 | NM_001372.4 | ENSP00000262442.3 | ||
DNAH9 | ENST00000454412.6 | c.1810A>G | p.Met604Val | missense_variant | Exon 10 of 68 | 5 | ENSP00000414874.2 |
Frequencies
GnomAD3 genomes AF: 0.0204 AC: 3099AN: 152182Hom.: 57 Cov.: 32
GnomAD3 exomes AF: 0.0232 AC: 5834AN: 251188Hom.: 93 AF XY: 0.0251 AC XY: 3412AN XY: 135776
GnomAD4 exome AF: 0.0263 AC: 38398AN: 1460772Hom.: 631 Cov.: 31 AF XY: 0.0269 AC XY: 19568AN XY: 726748
GnomAD4 genome AF: 0.0203 AC: 3098AN: 152300Hom.: 58 Cov.: 32 AF XY: 0.0192 AC XY: 1426AN XY: 74460
ClinVar
Submissions by phenotype
not provided Benign:2
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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: Candidate PCD gene, but frequency is high -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at