10-73792016-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001367799.1(ZSWIM8):c.1477C>T(p.Pro493Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000885 in 1,550,454 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001367799.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZSWIM8 | NM_001367799.1 | c.1477C>T | p.Pro493Ser | missense_variant | Exon 10 of 26 | ENST00000604729.6 | NP_001354728.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000525 AC: 80AN: 152254Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000541 AC: 83AN: 153438Hom.: 0 AF XY: 0.000539 AC XY: 44AN XY: 81566
GnomAD4 exome AF: 0.000924 AC: 1292AN: 1398200Hom.: 4 Cov.: 32 AF XY: 0.000896 AC XY: 618AN XY: 689408
GnomAD4 genome AF: 0.000525 AC: 80AN: 152254Hom.: 0 Cov.: 32 AF XY: 0.000484 AC XY: 36AN XY: 74384
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1477C>T (p.P493S) alteration is located in exon 10 (coding exon 10) of the ZSWIM8 gene. This alteration results from a C to T substitution at nucleotide position 1477, causing the proline (P) at amino acid position 493 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at