chr3-57445261-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001366028.2(DNAH12):āc.4338C>Gā(p.Tyr1446Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000715 in 1,398,990 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. Y1446Y) has been classified as Benign. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_001366028.2 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH12 | NM_001366028.2 | c.4338C>G | p.Tyr1446Ter | stop_gained | 28/74 | ENST00000495027.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH12 | ENST00000495027.6 | c.4338C>G | p.Tyr1446Ter | stop_gained | 28/74 | 5 | NM_001366028.2 | P1 | |
DNAH12 | ENST00000351747.6 | c.4269C>G | p.Tyr1423Ter | stop_gained | 28/59 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000641 AC: 1AN: 155998Hom.: 0 AF XY: 0.0000121 AC XY: 1AN XY: 82686
GnomAD4 exome AF: 7.15e-7 AC: 1AN: 1398990Hom.: 0 Cov.: 47 AF XY: 0.00000145 AC XY: 1AN XY: 689950
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at