chr3-57352120-C-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_001366028.2(DNAH12):c.9639G>A(p.Leu3213=) variant causes a synonymous 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L3213L) has been classified as Benign.
Frequency
Consequence
NM_001366028.2 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH12 | NM_001366028.2 | c.9639G>A | p.Leu3213= | synonymous_variant | 60/74 | ENST00000495027.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH12 | ENST00000495027.6 | c.9639G>A | p.Leu3213= | synonymous_variant | 60/74 | 5 | NM_001366028.2 | P1 | |
DNAH12 | ENST00000351747.6 | c.7035G>A | p.Leu2345= | synonymous_variant | 45/59 | 5 | |||
DNAH12 | ENST00000466540.2 | c.117G>A | p.Leu39= | synonymous_variant | 2/15 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at