rs61729402
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_015512.5(DNAH1):āc.1244A>Gā(p.Lys415Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00568 in 1,613,982 control chromosomes in the GnomAD database, including 71 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 Likely 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 | UniProt |
---|---|---|---|---|---|---|---|
DNAH1 | NM_015512.5 | c.1244A>G | p.Lys415Arg | missense_variant | 8/78 | ENST00000420323.7 | |
DNAH1 | XM_017006129.2 | c.1244A>G | p.Lys415Arg | missense_variant | 9/80 | ||
DNAH1 | XM_017006130.2 | c.1244A>G | p.Lys415Arg | missense_variant | 9/79 | ||
DNAH1 | XM_017006131.2 | c.1244A>G | p.Lys415Arg | missense_variant | 9/79 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH1 | ENST00000420323.7 | c.1244A>G | p.Lys415Arg | missense_variant | 8/78 | 1 | NM_015512.5 | P1 | |
DNAH1 | ENST00000486752.5 | n.1505A>G | non_coding_transcript_exon_variant | 8/77 | 2 | ||||
DNAH1 | ENST00000497875.1 | n.1409A>G | non_coding_transcript_exon_variant | 9/21 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00391 AC: 595AN: 152244Hom.: 5 Cov.: 32
GnomAD3 exomes AF: 0.00586 AC: 1456AN: 248352Hom.: 10 AF XY: 0.00687 AC XY: 926AN XY: 134820
GnomAD4 exome AF: 0.00586 AC: 8570AN: 1461620Hom.: 66 Cov.: 32 AF XY: 0.00639 AC XY: 4647AN XY: 727086
GnomAD4 genome ? AF: 0.00390 AC: 594AN: 152362Hom.: 5 Cov.: 32 AF XY: 0.00405 AC XY: 302AN XY: 74506
ClinVar
Submissions by phenotype
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Jul 09, 2018 | - - |
Likely benign, criteria provided, single submitter | clinical testing | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | Aug 25, 2023 | - - |
Spermatogenic failure 18;C4539798:Ciliary dyskinesia, primary, 37 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at