rs3105559
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001367479.1(DNAH14):c.2482C>A(p.Leu828Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000388 in 1,547,676 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/17 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. L828V) has been classified as Benign.
Frequency
Consequence
NM_001367479.1 missense
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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH14 | NM_001367479.1 | c.2482C>A | p.Leu828Met | missense_variant | 18/86 | ENST00000682510.1 | NP_001354408.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH14 | ENST00000682510.1 | c.2482C>A | p.Leu828Met | missense_variant | 18/86 | NM_001367479.1 | ENSP00000508305.1 | |||
DNAH14 | ENST00000430092.5 | c.2482C>A | p.Leu828Met | missense_variant | 18/84 | 5 | ENSP00000414402.1 | |||
DNAH14 | ENST00000439375.6 | c.2482C>A | p.Leu828Met | missense_variant | 17/83 | 5 | ENSP00000392061.2 | |||
DNAH14 | ENST00000445597.6 | c.2284C>A | p.Leu762Met | missense_variant | 14/61 | 5 | ENSP00000409472.2 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152022Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000358 AC: 5AN: 1395654Hom.: 0 Cov.: 50 AF XY: 0.00000436 AC XY: 3AN XY: 688230
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152022Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74244
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at