rs79763318
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_031415.3(GSDMC):c.759G>T(p.Ala253Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A253A) has been classified as Benign.
Frequency
Consequence
NM_031415.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GSDMC | ENST00000276708.9 | c.759G>T | p.Ala253Ala | synonymous_variant | Exon 7 of 14 | 1 | NM_031415.3 | ENSP00000276708.4 | ||
GSDMC | ENST00000522273.5 | n.104G>T | non_coding_transcript_exon_variant | Exon 1 of 8 | 1 | |||||
GSDMC | ENST00000619643.1 | c.759G>T | p.Ala253Ala | synonymous_variant | Exon 6 of 13 | 2 | ||||
GSDMC | ENST00000521365.1 | n.-26G>T | upstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248938Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134748
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at