17-4049808-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_015113.4(ZZEF1):āc.5915T>Cā(p.Leu1972Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.405 in 1,613,240 control chromosomes in the GnomAD database, including 139,077 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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_015113.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.493 AC: 74931AN: 151972Hom.: 20848 Cov.: 32
GnomAD3 exomes AF: 0.406 AC: 101844AN: 251110Hom.: 22312 AF XY: 0.399 AC XY: 54215AN XY: 135712
GnomAD4 exome AF: 0.395 AC: 577827AN: 1461150Hom.: 118169 Cov.: 44 AF XY: 0.394 AC XY: 286617AN XY: 726858
GnomAD4 genome AF: 0.493 AC: 75053AN: 152090Hom.: 20908 Cov.: 32 AF XY: 0.488 AC XY: 36278AN XY: 74366
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at