4-64280095-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001010874.5(TECRL):c.1069G>A(p.Ala357Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000277 in 1,442,582 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001010874.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TECRL | ENST00000381210.8 | c.1069G>A | p.Ala357Thr | missense_variant | Exon 12 of 12 | 1 | NM_001010874.5 | ENSP00000370607.3 | ||
TECRL | ENST00000511997 | c.*84G>A | 3_prime_UTR_variant | Exon 2 of 2 | 1 | ENSP00000423975.1 | ||||
TECRL | ENST00000507440.5 | c.964+946G>A | intron_variant | Intron 11 of 11 | 5 | ENSP00000426043.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000852 AC: 2AN: 234754Hom.: 0 AF XY: 0.00000786 AC XY: 1AN XY: 127306
GnomAD4 exome AF: 0.00000277 AC: 4AN: 1442582Hom.: 0 Cov.: 30 AF XY: 0.00000139 AC XY: 1AN XY: 717402
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Cardiovascular phenotype Uncertain:1
The c.1069G>A (p.A357T) alteration is located in exon 12 (coding exon 12) of the TECRL gene. This alteration results from a G to A substitution at nucleotide position 1069, causing the alanine (A) at amino acid position 357 to be replaced by a threonine (T). 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