NM_001372106.1:c.12131C>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001372106.1(DNAH10):c.12131C>T(p.Ala4044Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000411 in 1,604,692 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. A4044A) has been classified as Benign.
Frequency
Consequence
NM_001372106.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH10 | NM_001372106.1 | c.12131C>T | p.Ala4044Val | missense_variant | Exon 70 of 79 | ENST00000673944.1 | NP_001359035.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH10 | ENST00000673944.1 | c.12131C>T | p.Ala4044Val | missense_variant | Exon 70 of 79 | NM_001372106.1 | ENSP00000501095.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152134Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000130 AC: 3AN: 230812Hom.: 0 AF XY: 0.0000159 AC XY: 2AN XY: 125926
GnomAD4 exome AF: 0.0000447 AC: 65AN: 1452558Hom.: 0 Cov.: 31 AF XY: 0.0000416 AC XY: 30AN XY: 721650
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152134Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.11777C>T (p.A3926V) alteration is located in exon 69 (coding exon 69) of the DNAH10 gene. This alteration results from a C to T substitution at nucleotide position 11777, causing the alanine (A) at amino acid position 3926 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at