rs1622002
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001080843.4(GSTT2B):c.417G>A(p.Met139Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0316 in 1,428,374 control chromosomes in the GnomAD database, including 1,675 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/19 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 nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001080843.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GSTT2B | NM_001080843.4 | c.417G>A | p.Met139Ile | missense_variant | 4/5 | ENST00000290765.9 | |
GSTT2B | NM_001363804.1 | c.417G>A | p.Met139Ile | missense_variant | 4/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GSTT2B | ENST00000290765.9 | c.417G>A | p.Met139Ile | missense_variant | 4/5 | 1 | NM_001080843.4 | P1 | |
GSTT2B | ENST00000404172.3 | c.417G>A | p.Met139Ile | missense_variant | 4/5 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0661 AC: 9882AN: 149544Hom.: 334 Cov.: 19
GnomAD3 exomes AF: 0.0530 AC: 12869AN: 242684Hom.: 746 AF XY: 0.0486 AC XY: 6380AN XY: 131396
GnomAD4 exome AF: 0.0316 AC: 45122AN: 1428374Hom.: 1675 Cov.: 29 AF XY: 0.0316 AC XY: 22497AN XY: 711414
GnomAD4 genome ? Data not reliable, filtered out with message: AS_VQSR AF: 0.0662 AC: 9906AN: 149656Hom.: 334 Cov.: 19 AF XY: 0.0661 AC XY: 4830AN XY: 73024
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at