chr19-3595710-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001060.6(TBXA2R):c.1010C>A(p.Thr337Lys) 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. 11/14 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T337M) has been classified as Uncertain significance.
Frequency
Consequence
NM_001060.6 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TBXA2R | NM_001060.6 | c.1010C>A | p.Thr337Lys | missense_variant | 3/3 | ENST00000375190.10 | |
TBXA2R | XM_011528214.3 | c.1010C>A | p.Thr337Lys | missense_variant | 4/4 | ||
TBXA2R | NM_201636.3 | c.983+27C>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TBXA2R | ENST00000375190.10 | c.1010C>A | p.Thr337Lys | missense_variant | 3/3 | 1 | NM_001060.6 | P1 | |
TBXA2R | ENST00000589966.1 | c.621C>A | p.His207Gln | missense_variant | 2/2 | 1 | |||
TBXA2R | ENST00000411851.3 | c.983+27C>A | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 65
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | GeneDx | Dec 12, 2022 | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.