rs193921090
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001347886.2(DNAH3):c.6130C>T(p.His2044Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 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. H2044N) has been classified as Uncertain significance.
Frequency
Consequence
NM_001347886.2 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 |
---|---|---|---|---|---|---|---|
DNAH3 | NM_001347886.2 | c.6130C>T | p.His2044Tyr | missense_variant | 43/62 | ENST00000698260.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH3 | ENST00000698260.1 | c.6130C>T | p.His2044Tyr | missense_variant | 43/62 | NM_001347886.2 | P1 | ||
DNAH3 | ENST00000261383.3 | c.6268C>T | p.His2090Tyr | missense_variant | 43/62 | 1 | |||
DNAH3 | ENST00000685858.1 | c.6310C>T | p.His2104Tyr | missense_variant | 43/62 | ||||
DNAH3 | ENST00000572640.5 | n.2979C>T | non_coding_transcript_exon_variant | 20/21 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at