rs781655188
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4BP7
The NM_001367834.3(ZSWIM4):c.172C>A(p.Arg58Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,696 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001367834.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZSWIM4 | NM_001367834.3 | c.172C>A | p.Arg58Arg | synonymous_variant | Exon 2 of 14 | ENST00000590508.6 | NP_001354763.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZSWIM4 | ENST00000590508.6 | c.172C>A | p.Arg58Arg | synonymous_variant | Exon 2 of 14 | 2 | NM_001367834.3 | ENSP00000468285.2 | ||
ZSWIM4 | ENST00000254323.6 | c.172C>A | p.Arg58Arg | synonymous_variant | Exon 2 of 13 | 2 | ENSP00000254323.2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461696Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727130
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.