NM_152787.5:c.2132A>G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152787.5(TAB3):c.2132A>G(p.Tyr711Cys) variant causes a missense 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. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152787.5 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 |
---|---|---|---|---|---|---|---|---|
TAB3 | NM_152787.5 | c.2132A>G | p.Tyr711Cys | missense_variant | Exon 11 of 11 | ENST00000288422.4 | NP_690000.3 | |
TAB3 | NM_001399872.1 | c.2048A>G | p.Tyr683Cys | missense_variant | Exon 10 of 10 | NP_001386801.1 | ||
TAB3 | NM_001399873.1 | c.2030A>G | p.Tyr677Cys | missense_variant | Exon 10 of 10 | NP_001386802.1 | ||
TAB3 | XM_047441986.1 | c.2132A>G | p.Tyr711Cys | missense_variant | Exon 11 of 11 | XP_047297942.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TAB3 | ENST00000288422.4 | c.2132A>G | p.Tyr711Cys | missense_variant | Exon 11 of 11 | 5 | NM_152787.5 | ENSP00000288422.4 | ||
TAB3 | ENST00000378930.7 | c.2132A>G | p.Tyr711Cys | missense_variant | Exon 7 of 7 | 1 | ENSP00000368212.3 | |||
TAB3 | ENST00000378933.5 | c.2132A>G | p.Tyr711Cys | missense_variant | Exon 12 of 12 | 1 | ENSP00000368215.1 | |||
TAB3 | ENST00000378932.6 | c.2048A>G | p.Tyr683Cys | missense_variant | Exon 11 of 11 | 1 | ENSP00000368214.2 |
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 22
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2132A>G (p.Y711C) alteration is located in exon 11 (coding exon 7) of the TAB3 gene. This alteration results from a A to G substitution at nucleotide position 2132, causing the tyrosine (Y) at amino acid position 711 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.