chr3-52383578-A-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_015512.5(DNAH1):āc.8134A>Gā(p.Met2712Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00248 in 1,594,326 control chromosomes in the GnomAD database, including 65 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ).
Frequency
Consequence
NM_015512.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH1 | NM_015512.5 | c.8134A>G | p.Met2712Val | missense_variant | 51/78 | ENST00000420323.7 | |
DNAH1 | XM_017006129.2 | c.8203A>G | p.Met2735Val | missense_variant | 53/80 | ||
DNAH1 | XM_017006130.2 | c.8134A>G | p.Met2712Val | missense_variant | 52/79 | ||
DNAH1 | XM_017006131.2 | c.8203A>G | p.Met2735Val | missense_variant | 53/79 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH1 | ENST00000420323.7 | c.8134A>G | p.Met2712Val | missense_variant | 51/78 | 1 | NM_015512.5 | P1 | |
DNAH1 | ENST00000486752.5 | n.8395A>G | non_coding_transcript_exon_variant | 51/77 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0113 AC: 1715AN: 152250Hom.: 33 Cov.: 33
GnomAD3 exomes AF: 0.00333 AC: 722AN: 216568Hom.: 9 AF XY: 0.00270 AC XY: 317AN XY: 117268
GnomAD4 exome AF: 0.00154 AC: 2221AN: 1441958Hom.: 32 Cov.: 31 AF XY: 0.00143 AC XY: 1020AN XY: 715390
GnomAD4 genome AF: 0.0113 AC: 1725AN: 152368Hom.: 33 Cov.: 33 AF XY: 0.0113 AC XY: 839AN XY: 74518
ClinVar
Submissions by phenotype
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