1-109717418-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000851.4(GSTM5):c.649A>T(p.Ser217Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,514 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 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. S217G) has been classified as Benign.
Frequency
Consequence
NM_000851.4 missense
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 |
---|---|---|---|---|---|---|---|---|
GSTM5 | NM_000851.4 | c.649A>T | p.Ser217Cys | missense_variant | Exon 8 of 8 | ENST00000256593.8 | NP_000842.2 | |
GSTM5 | XM_005270784.5 | c.649A>T | p.Ser217Cys | missense_variant | Exon 9 of 9 | XP_005270841.1 | ||
GSTM5 | XM_005270785.5 | c.337A>T | p.Ser113Cys | missense_variant | Exon 5 of 5 | XP_005270842.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460514Hom.: 0 Cov.: 29 AF XY: 0.00000138 AC XY: 1AN XY: 726698
GnomAD4 genome Cov.: 32
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.