rs121918663
Variant summary
Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM2PM5PP3_StrongPP5
The NM_198253.3(TERT):c.2315A>G(p.Tyr772Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Y772H) has been classified as Likely pathogenic.
Frequency
Consequence
NM_198253.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TERT | NM_198253.3 | c.2315A>G | p.Tyr772Cys | missense_variant | 7/16 | ENST00000310581.10 | |
TERT | NM_001193376.3 | c.2315A>G | p.Tyr772Cys | missense_variant | 7/15 | ||
TERT | NR_149162.3 | n.2366-3619A>G | intron_variant, non_coding_transcript_variant | ||||
TERT | NR_149163.3 | n.2330-3619A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TERT | ENST00000310581.10 | c.2315A>G | p.Tyr772Cys | missense_variant | 7/16 | 1 | NM_198253.3 | P2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Apr 07, 2005 | - - |
Aplastic anemia Other:1
not provided, no classification provided | literature only | GeneReviews | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at