5-1266455-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_198253.3(TERT):c.2654+9C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000689 in 1,452,042 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_198253.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TERT | NM_198253.3 | c.2654+9C>A | intron_variant | Intron 10 of 15 | ENST00000310581.10 | NP_937983.2 | ||
TERT | NM_001193376.3 | c.2654+9C>A | intron_variant | Intron 10 of 14 | NP_001180305.1 | |||
TERT | NR_149162.3 | n.2551+9C>A | intron_variant | Intron 8 of 12 | ||||
TERT | NR_149163.3 | n.2515+9C>A | intron_variant | Intron 8 of 12 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.89e-7 AC: 1AN: 1452042Hom.: 0 Cov.: 31 AF XY: 0.00000139 AC XY: 1AN XY: 721078
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.