3-52383915-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP6_Moderate
The NM_015512.5(DNAH1):āc.8206T>Cā(p.Cys2736Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000121 in 1,613,440 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (ā ). Synonymous variant affecting the same amino acid position (i.e. C2736C) has been classified as Likely benign.
Frequency
Consequence
NM_015512.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH1 | NM_015512.5 | c.8206T>C | p.Cys2736Arg | missense_variant | 52/78 | ENST00000420323.7 | |
DNAH1 | XM_017006129.2 | c.8275T>C | p.Cys2759Arg | missense_variant | 54/80 | ||
DNAH1 | XM_017006130.2 | c.8206T>C | p.Cys2736Arg | missense_variant | 53/79 | ||
DNAH1 | XM_017006131.2 | c.8275T>C | p.Cys2759Arg | missense_variant | 54/79 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH1 | ENST00000420323.7 | c.8206T>C | p.Cys2736Arg | missense_variant | 52/78 | 1 | NM_015512.5 | P1 | |
DNAH1 | ENST00000486752.5 | n.8467T>C | non_coding_transcript_exon_variant | 52/77 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152238Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000242 AC: 60AN: 248284Hom.: 0 AF XY: 0.000230 AC XY: 31AN XY: 134734
GnomAD4 exome AF: 0.000120 AC: 176AN: 1461202Hom.: 0 Cov.: 31 AF XY: 0.000122 AC XY: 89AN XY: 726812
GnomAD4 genome AF: 0.000125 AC: 19AN: 152238Hom.: 0 Cov.: 33 AF XY: 0.000108 AC XY: 8AN XY: 74378
ClinVar
Submissions by phenotype
Spermatogenic failure 18;C4539798:Ciliary dyskinesia, primary, 37 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 30, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at