rs778331898
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000851.4(GSTM5):āc.454A>Cā(p.Lys152Gln) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.00000205 in 1,461,876 control chromosomes in the GnomAD database, with no homozygous occurrence. 3/3 splice prediction tools predict no significant impact on normal splicing. 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. K152E) has been classified as Uncertain significance.
Frequency
Consequence
NM_000851.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GSTM5 | NM_000851.4 | c.454A>C | p.Lys152Gln | missense_variant, splice_region_variant | Exon 6 of 8 | ENST00000256593.8 | NP_000842.2 | |
GSTM5 | XM_005270784.5 | c.454A>C | p.Lys152Gln | missense_variant, splice_region_variant | Exon 7 of 9 | XP_005270841.1 | ||
GSTM5 | XM_005270785.5 | c.142A>C | p.Lys48Gln | missense_variant, splice_region_variant | Exon 3 of 5 | XP_005270842.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461876Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727240
GnomAD4 genome Cov.: 33
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.