rs34170122
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_198253.3(TERT):c.1836C>T(p.Ala612Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,396 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_198253.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TERT | NM_198253.3 | c.1836C>T | p.Ala612Ala | synonymous_variant | 4/16 | ENST00000310581.10 | NP_937983.2 | |
TERT | NM_001193376.3 | c.1836C>T | p.Ala612Ala | synonymous_variant | 4/15 | NP_001180305.1 | ||
TERT | NR_149162.3 | n.1915C>T | non_coding_transcript_exon_variant | 4/13 | ||||
TERT | NR_149163.3 | n.1915C>T | non_coding_transcript_exon_variant | 4/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TERT | ENST00000310581.10 | c.1836C>T | p.Ala612Ala | synonymous_variant | 4/16 | 1 | NM_198253.3 | ENSP00000309572.5 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461396Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726998
GnomAD4 genome Cov.: 34
ClinVar
Submissions by phenotype
Idiopathic Pulmonary Fibrosis;C3151443:Dyskeratosis congenita, autosomal dominant 2 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | May 25, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.