rs220379
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_005741.5(ZNF263):c.929G>A(p.Cys310Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000219 in 1,371,912 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/15 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. C310S) has been classified as Likely benign.
Frequency
Consequence
NM_005741.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF263 | NM_005741.5 | c.929G>A | p.Cys310Tyr | missense_variant | 6/6 | ENST00000219069.6 | |
ZNF263 | NM_001411015.1 | c.929G>A | p.Cys310Tyr | missense_variant | 6/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF263 | ENST00000219069.6 | c.929G>A | p.Cys310Tyr | missense_variant | 6/6 | 1 | NM_005741.5 | P4 | |
ENST00000703449.1 | c.-128G>A | 5_prime_UTR_variant | 2/2 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000559 AC: 1AN: 178864Hom.: 0 AF XY: 0.0000106 AC XY: 1AN XY: 93966
GnomAD4 exome AF: 0.00000219 AC: 3AN: 1371912Hom.: 0 Cov.: 33 AF XY: 0.00000297 AC XY: 2AN XY: 673366
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at