19-19516312-T-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_015965.7(NDUFA13):āc.74T>Gā(p.Leu25Trp) variant causes a missense change. The variant allele was found at a frequency of 0.000517 in 1,613,342 control chromosomes in the GnomAD database, including 7 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ).
Frequency
Consequence
NM_015965.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NDUFA13 | ENST00000507754.9 | c.74T>G | p.Leu25Trp | missense_variant | Exon 1 of 5 | 1 | NM_015965.7 | ENSP00000423673.1 | ||
ENSG00000258674 | ENST00000555938.1 | c.74T>G | p.Leu25Trp | missense_variant | Exon 1 of 7 | 2 | ENSP00000452549.1 |
Frequencies
GnomAD3 genomes AF: 0.000606 AC: 92AN: 151916Hom.: 2 Cov.: 33
GnomAD3 exomes AF: 0.000964 AC: 241AN: 249984Hom.: 0 AF XY: 0.000848 AC XY: 115AN XY: 135616
GnomAD4 exome AF: 0.000508 AC: 742AN: 1461426Hom.: 5 Cov.: 32 AF XY: 0.000519 AC XY: 377AN XY: 727010
GnomAD4 genome AF: 0.000606 AC: 92AN: 151916Hom.: 2 Cov.: 33 AF XY: 0.000701 AC XY: 52AN XY: 74194
ClinVar
Submissions by phenotype
not provided Benign:1
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NDUFA13-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at