rs531503
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_003386.3(ZAN):āc.6332T>Cā(p.Leu2111Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.358 in 1,604,854 control chromosomes in the GnomAD database, including 104,210 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/16 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 same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_003386.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZAN | NM_003386.3 | c.6332T>C | p.Leu2111Pro | missense_variant | 35/48 | ENST00000613979.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZAN | ENST00000613979.5 | c.6332T>C | p.Leu2111Pro | missense_variant | 35/48 | 1 | NM_003386.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.366 AC: 55658AN: 151964Hom.: 10343 Cov.: 33
GnomAD3 exomes AF: 0.347 AC: 83404AN: 240422Hom.: 14790 AF XY: 0.345 AC XY: 45217AN XY: 130946
GnomAD4 exome AF: 0.357 AC: 518461AN: 1452772Hom.: 93852 Cov.: 47 AF XY: 0.355 AC XY: 256086AN XY: 721458
GnomAD4 genome ? AF: 0.366 AC: 55698AN: 152082Hom.: 10358 Cov.: 33 AF XY: 0.364 AC XY: 27082AN XY: 74350
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at