5-1294846-G-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_198253.3(TERT):c.144C>A(p.Arg48Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 152,048 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 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TERT | NM_198253.3 | c.144C>A | p.Arg48Arg | synonymous_variant | 1/16 | ENST00000310581.10 | NP_937983.2 | |
TERT | NM_001193376.3 | c.144C>A | p.Arg48Arg | synonymous_variant | 1/15 | NP_001180305.1 | ||
TERT | NR_149162.3 | n.223C>A | non_coding_transcript_exon_variant | 1/13 | ||||
TERT | NR_149163.3 | n.223C>A | non_coding_transcript_exon_variant | 1/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TERT | ENST00000310581.10 | c.144C>A | p.Arg48Arg | synonymous_variant | 1/16 | 1 | NM_198253.3 | ENSP00000309572.5 | ||
TERT | ENST00000334602.10 | c.144C>A | p.Arg48Arg | synonymous_variant | 1/15 | 1 | ENSP00000334346.6 | |||
TERT | ENST00000460137.6 | n.144C>A | non_coding_transcript_exon_variant | 1/13 | 1 | ENSP00000425003.1 | ||||
TERT | ENST00000656021.1 | n.144C>A | non_coding_transcript_exon_variant | 1/17 | ENSP00000499759.1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152048Hom.: 0 Cov.: 34
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1307094Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 642936
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152048Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74276
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at