rs113617561
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_015512.5(DNAH1):c.6558T>C(p.Ala2186=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 152,088 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A2186A) 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 -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH1 | NM_015512.5 | c.6558T>C | p.Ala2186= | synonymous_variant | 42/78 | ENST00000420323.7 | |
DNAH1 | XM_017006129.2 | c.6627T>C | p.Ala2209= | synonymous_variant | 44/80 | ||
DNAH1 | XM_017006130.2 | c.6558T>C | p.Ala2186= | synonymous_variant | 43/79 | ||
DNAH1 | XM_017006131.2 | c.6627T>C | p.Ala2209= | synonymous_variant | 44/79 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH1 | ENST00000420323.7 | c.6558T>C | p.Ala2186= | synonymous_variant | 42/78 | 1 | NM_015512.5 | P1 | |
DNAH1 | ENST00000486752.5 | n.6819T>C | non_coding_transcript_exon_variant | 42/77 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 152088Hom.: 0 Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 152088Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74286
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at