3-57402387-T-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001366028.2(DNAH12):c.6948+922A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000868 in 1,152,416 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.
Frequency
Consequence
NM_001366028.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH12 | NM_001366028.2 | c.6948+922A>C | intron_variant | Intron 43 of 73 | ENST00000495027.6 | NP_001352957.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH12 | ENST00000495027.6 | c.6948+922A>C | intron_variant | Intron 43 of 73 | 5 | NM_001366028.2 | ENSP00000418137.2 | |||
DNAH12 | ENST00000351747.6 | c.6929+5A>C | splice_region_variant, intron_variant | Intron 44 of 58 | 5 | ENSP00000295937.3 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome AF: 8.68e-7 AC: 1AN: 1152416Hom.: 0 Cov.: 33 AF XY: 0.00000177 AC XY: 1AN XY: 565102
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.