16-10675963-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_144674.2(TEKT5):c.1082C>T(p.Ala361Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000205 in 1,613,686 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. A361T) has been classified as Uncertain significance.
Frequency
Consequence
NM_144674.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TEKT5 | NM_144674.2 | c.1082C>T | p.Ala361Val | missense_variant | 5/7 | ENST00000283025.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TEKT5 | ENST00000283025.7 | c.1082C>T | p.Ala361Val | missense_variant | 5/7 | 1 | NM_144674.2 | P1 | |
TEKT5 | ENST00000576638.1 | c.401C>T | p.Ala134Val | missense_variant | 4/5 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000789 AC: 12AN: 152166Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 251196Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135780
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1461520Hom.: 0 Cov.: 31 AF XY: 0.0000206 AC XY: 15AN XY: 727090
GnomAD4 genome ? AF: 0.0000789 AC: 12AN: 152166Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74334
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 17, 2023 | The c.1082C>T (p.A361V) alteration is located in exon 5 (coding exon 5) of the TEKT5 gene. This alteration results from a C to T substitution at nucleotide position 1082, causing the alanine (A) at amino acid position 361 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