rs201550077
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_015512.5(DNAH1):c.9021G>A(p.Val3007=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,457,324 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. V3007V) has been classified as Likely benign.
Frequency
Consequence
NM_015512.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH1 | NM_015512.5 | c.9021G>A | p.Val3007= | synonymous_variant | 57/78 | ENST00000420323.7 | |
DNAH1 | XM_017006129.2 | c.9090G>A | p.Val3030= | synonymous_variant | 59/80 | ||
DNAH1 | XM_017006130.2 | c.9021G>A | p.Val3007= | synonymous_variant | 58/79 | ||
DNAH1 | XM_017006131.2 | c.9090G>A | p.Val3030= | synonymous_variant | 59/79 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH1 | ENST00000420323.7 | c.9021G>A | p.Val3007= | synonymous_variant | 57/78 | 1 | NM_015512.5 | P1 | |
DNAH1 | ENST00000486752.5 | n.9282G>A | non_coding_transcript_exon_variant | 57/77 | 2 | ||||
DNAH1 | ENST00000488988.5 | n.611G>A | non_coding_transcript_exon_variant | 5/25 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000414 AC: 1AN: 241356Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 130690
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1457324Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 724326
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Spermatogenic failure 18;C4539798:Ciliary dyskinesia, primary, 37 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 01, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at