3-52369976-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015512.5(DNAH1):c.6095C>G(p.Pro2032Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000411 in 1,461,576 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P2032L) has been classified as Uncertain significance.
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.6095C>G | p.Pro2032Arg | missense_variant | 38/78 | ENST00000420323.7 | |
DNAH1 | XM_017006129.2 | c.6164C>G | p.Pro2055Arg | missense_variant | 40/80 | ||
DNAH1 | XM_017006130.2 | c.6095C>G | p.Pro2032Arg | missense_variant | 39/79 | ||
DNAH1 | XM_017006131.2 | c.6164C>G | p.Pro2055Arg | missense_variant | 40/79 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH1 | ENST00000420323.7 | c.6095C>G | p.Pro2032Arg | missense_variant | 38/78 | 1 | NM_015512.5 | P1 | |
DNAH1 | ENST00000486752.5 | n.6356C>G | non_coding_transcript_exon_variant | 38/77 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000803 AC: 2AN: 249190Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135180
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1461576Hom.: 0 Cov.: 32 AF XY: 0.00000413 AC XY: 3AN XY: 727064
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at