rs202094249
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_015512.5(DNAH1):āc.12626A>Gā(p.Gln4209Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000317 in 1,614,022 control chromosomes in the GnomAD database, including 7 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 (ā ā ).
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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH1 | NM_015512.5 | c.12626A>G | p.Gln4209Arg | missense_variant | 77/78 | ENST00000420323.7 | NP_056327.4 | |
DNAH1 | XM_017006129.2 | c.12695A>G | p.Gln4232Arg | missense_variant | 79/80 | XP_016861618.1 | ||
DNAH1 | XM_017006130.2 | c.12626A>G | p.Gln4209Arg | missense_variant | 78/79 | XP_016861619.1 | ||
DNAH1 | XM_017006131.2 | c.12569A>G | p.Gln4190Arg | missense_variant | 78/79 | XP_016861620.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH1 | ENST00000420323.7 | c.12626A>G | p.Gln4209Arg | missense_variant | 77/78 | 1 | NM_015512.5 | ENSP00000401514.2 |
Frequencies
GnomAD3 genomes AF: 0.000256 AC: 39AN: 152220Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00175 AC: 437AN: 249144Hom.: 7 AF XY: 0.00124 AC XY: 168AN XY: 135172
GnomAD4 exome AF: 0.000324 AC: 473AN: 1461684Hom.: 7 Cov.: 32 AF XY: 0.000254 AC XY: 185AN XY: 727128
GnomAD4 genome AF: 0.000256 AC: 39AN: 152338Hom.: 0 Cov.: 33 AF XY: 0.000242 AC XY: 18AN XY: 74492
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | Mar 09, 2022 | - - |
Spermatogenic failure 18;C4539798:Ciliary dyskinesia, primary, 37 Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 25, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at