rs140194
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001080843.4(GSTT2B):c.352-15C>T variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000013 ( 0 hom., cov: 36)
Exomes 𝑓: 0.0000069 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
GSTT2B
NM_001080843.4 splice_polypyrimidine_tract, intron
NM_001080843.4 splice_polypyrimidine_tract, intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.474
Genes affected
GSTT2B (HGNC:33437): (glutathione S-transferase theta 2B) The protein encoded by this gene, glutathione S-transferase (GST) theta 2B (GSTT2B), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT2 and GSTT2B are nearly identical to each other, and share 55% amino acid identity with GSTT1. All three genes may play a role in human carcinogenesis. The GSTT2B gene is a pseudogene in some populations. [provided by RefSeq, Sep 2015]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.88).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GSTT2B | NM_001080843.4 | c.352-15C>T | splice_polypyrimidine_tract_variant, intron_variant | ENST00000290765.9 | |||
GSTT2B | NM_001363804.1 | c.352-15C>T | splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GSTT2B | ENST00000290765.9 | c.352-15C>T | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_001080843.4 | P1 | |||
GSTT2B | ENST00000404172.3 | c.352-15C>T | splice_polypyrimidine_tract_variant, intron_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 2AN: 151480Hom.: 0 Cov.: 36 FAILED QC
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GnomAD3 exomes AF: 0.0000217 AC: 2AN: 92024Hom.: 0 AF XY: 0.0000212 AC XY: 1AN XY: 47170
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000686 AC: 10AN: 1456806Hom.: 0 Cov.: 77 AF XY: 0.0000124 AC XY: 9AN XY: 724780
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GnomAD4 genome ? Data not reliable, filtered out with message: AS_VQSR AF: 0.0000132 AC: 2AN: 151480Hom.: 0 Cov.: 36 AF XY: 0.0000271 AC XY: 2AN XY: 73924
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at