rs536663755
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_015512.5(DNAH1):āc.4806C>Gā(p.Thr1602=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,028 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. T1602T) 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.4806C>G | p.Thr1602= | synonymous_variant | 29/78 | ENST00000420323.7 | |
DNAH1 | XM_017006129.2 | c.4806C>G | p.Thr1602= | synonymous_variant | 30/80 | ||
DNAH1 | XM_017006130.2 | c.4806C>G | p.Thr1602= | synonymous_variant | 30/79 | ||
DNAH1 | XM_017006131.2 | c.4806C>G | p.Thr1602= | synonymous_variant | 30/79 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH1 | ENST00000420323.7 | c.4806C>G | p.Thr1602= | synonymous_variant | 29/78 | 1 | NM_015512.5 | P1 | |
DNAH1 | ENST00000466628.1 | n.66C>G | non_coding_transcript_exon_variant | 1/2 | 5 | ||||
DNAH1 | ENST00000486752.5 | n.5067C>G | non_coding_transcript_exon_variant | 29/77 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459028Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 725602
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at