9-122159641-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014222.3(NDUFA8):āc.37C>Gā(p.Leu13Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000465 in 1,614,030 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_014222.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152196Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251404Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135898
GnomAD4 exome AF: 0.0000458 AC: 67AN: 1461834Hom.: 0 Cov.: 32 AF XY: 0.0000481 AC XY: 35AN XY: 727230
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152196Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.37C>G (p.L13V) alteration is located in exon 1 (coding exon 1) of the NDUFA8 gene. This alteration results from a C to G substitution at nucleotide position 37, causing the leucine (L) at amino acid position 13 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