chr10-112293784-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_058222.3(TECTB):c.530C>T(p.Ala177Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000285 in 1,614,046 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_058222.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TECTB | ENST00000646139.2 | c.530C>T | p.Ala177Val | missense_variant | Exon 6 of 11 | NM_058222.3 | ENSP00000494896.1 | |||
TECTB | ENST00000369422.4 | c.530C>T | p.Ala177Val | missense_variant | Exon 5 of 10 | 1 | ENSP00000358430.3 | |||
TECTB | ENST00000643850.1 | c.560C>T | p.Ala187Val | missense_variant | Exon 6 of 11 | ENSP00000495832.1 | ||||
TECTB | ENST00000645243.1 | c.530C>T | p.Ala177Val | missense_variant | Exon 6 of 11 | ENSP00000495514.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000636 AC: 16AN: 251462Hom.: 0 AF XY: 0.0000441 AC XY: 6AN XY: 135904
GnomAD4 exome AF: 0.0000308 AC: 45AN: 1461884Hom.: 0 Cov.: 30 AF XY: 0.0000330 AC XY: 24AN XY: 727244
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.530C>T (p.A177V) alteration is located in exon 5 (coding exon 5) of the TECTB gene. This alteration results from a C to T substitution at nucleotide position 530, causing the alanine (A) at amino acid position 177 to be replaced by a valine (V). 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