rs763133422
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_014844.5(TECPR2):c.4030C>A(p.Pro1344Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000124 in 1,456,714 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P1344A) has been classified as Uncertain significance.
Frequency
Consequence
NM_014844.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TECPR2 | NM_014844.5 | c.4030C>A | p.Pro1344Thr | missense_variant | 19/20 | ENST00000359520.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TECPR2 | ENST00000359520.12 | c.4030C>A | p.Pro1344Thr | missense_variant | 19/20 | 1 | NM_014844.5 | P1 | |
TECPR2 | ENST00000559124.1 | n.130C>A | non_coding_transcript_exon_variant | 1/2 | 2 | ||||
TECPR2 | ENST00000561099.1 | n.339C>A | non_coding_transcript_exon_variant | 2/3 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000296 AC: 7AN: 236446Hom.: 0 AF XY: 0.0000154 AC XY: 2AN XY: 129544
GnomAD4 exome AF: 0.0000124 AC: 18AN: 1456714Hom.: 0 Cov.: 32 AF XY: 0.00000967 AC XY: 7AN XY: 724248
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at