rs2070856
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001898.3(CST1):c.92C>T(p.Pro31Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.145 in 1,613,842 control chromosomes in the GnomAD database, including 19,097 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001898.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CST1 | NM_001898.3 | c.92C>T | p.Pro31Leu | missense_variant | 1/3 | ENST00000304749.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CST1 | ENST00000304749.7 | c.92C>T | p.Pro31Leu | missense_variant | 1/3 | 1 | NM_001898.3 | P1 | |
CST1 | ENST00000398402.1 | c.92C>T | p.Pro31Leu | missense_variant | 2/4 | 5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.155 AC: 23516AN: 152004Hom.: 2041 Cov.: 31
GnomAD3 exomes AF: 0.145 AC: 36354AN: 251334Hom.: 3311 AF XY: 0.154 AC XY: 20881AN XY: 135842
GnomAD4 exome AF: 0.144 AC: 211180AN: 1461718Hom.: 17052 Cov.: 33 AF XY: 0.149 AC XY: 108333AN XY: 727172
GnomAD4 genome ? AF: 0.155 AC: 23538AN: 152124Hom.: 2045 Cov.: 31 AF XY: 0.156 AC XY: 11593AN XY: 74364
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at