chr17-8231437-G-C
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 2P and 13B. PM2BP4_StrongBP6_Very_StrongBP7
The NM_025099.6(CTC1):c.2508C>G(p.Ser836=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000955 in 1,612,216 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 (★★). Synonymous variant affecting the same amino acid position (i.e. S836S) has been classified as Likely benign.
Frequency
Consequence
NM_025099.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CTC1 | NM_025099.6 | c.2508C>G | p.Ser836= | synonymous_variant | 15/23 | ENST00000651323.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CTC1 | ENST00000651323.1 | c.2508C>G | p.Ser836= | synonymous_variant | 15/23 | NM_025099.6 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000434 AC: 66AN: 152222Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000145 AC: 36AN: 248382Hom.: 0 AF XY: 0.000141 AC XY: 19AN XY: 134782
GnomAD4 exome AF: 0.0000603 AC: 88AN: 1459876Hom.: 0 Cov.: 32 AF XY: 0.0000578 AC XY: 42AN XY: 726070
GnomAD4 genome ? AF: 0.000433 AC: 66AN: 152340Hom.: 0 Cov.: 32 AF XY: 0.000483 AC XY: 36AN XY: 74496
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Sep 01, 2021 | - - |
Dyskeratosis congenita Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 16, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at