chr6-42228641-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001395490.1(TRERF1):c.3343G>A(p.Ala1115Thr) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001395490.1 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRERF1 | NM_001395490.1 | c.3343G>A | p.Ala1115Thr | missense_variant | Exon 18 of 18 | ENST00000695948.1 | NP_001382419.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRERF1 | ENST00000695948.1 | c.3343G>A | p.Ala1115Thr | missense_variant | Exon 18 of 18 | NM_001395490.1 | ENSP00000512293.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3307G>A (p.A1103T) alteration is located in exon 18 (coding exon 14) of the TRERF1 gene. This alteration results from a G to A substitution at nucleotide position 3307, causing the alanine (A) at amino acid position 1103 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
Publications
No publications associated with this variant yet.