rs6806444
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001366028.2(DNAH12):c.1399A>T(p.Thr467Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 15/18 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. T467P) has been classified as Benign.
Frequency
Consequence
NM_001366028.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH12 | NM_001366028.2 | c.1399A>T | p.Thr467Ser | missense_variant | 12/74 | ENST00000495027.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH12 | ENST00000495027.6 | c.1399A>T | p.Thr467Ser | missense_variant | 12/74 | 5 | NM_001366028.2 | P1 | |
DNAH12 | ENST00000351747.6 | c.1399A>T | p.Thr467Ser | missense_variant | 12/59 | 5 | |||
DNAH12 | ENST00000389536.8 | c.1399A>T | p.Thr467Ser | missense_variant | 12/17 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 30
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 1388976Hom.: 0 Cov.: 47 AF XY: 0.00 AC XY: 0AN XY: 684774
GnomAD4 genome ? Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at