rs10131298
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001077594.2(EXOC3L4):c.554T>A(p.Leu185His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.244 in 1,580,606 control chromosomes in the GnomAD database, including 47,530 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 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 nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_001077594.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.243 AC: 36928AN: 152066Hom.: 4628 Cov.: 34
GnomAD3 exomes AF: 0.240 AC: 47122AN: 196358Hom.: 5756 AF XY: 0.244 AC XY: 26386AN XY: 108136
GnomAD4 exome AF: 0.244 AC: 348539AN: 1428422Hom.: 42891 Cov.: 36 AF XY: 0.245 AC XY: 173603AN XY: 708518
GnomAD4 genome AF: 0.243 AC: 36975AN: 152184Hom.: 4639 Cov.: 34 AF XY: 0.240 AC XY: 17886AN XY: 74414
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at