2-47403074-TTG-CTT
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001258281.1(MSH2):c.-132_-130delTTGinsCTT variant causes a 5 prime UTR change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001258281.1 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MSH2 | ENST00000543555 | c.-132_-130delTTGinsCTT | 5_prime_UTR_variant | Exon 1 of 17 | 2 | ENSP00000442697.1 | ||||
MSH2 | ENST00000645506.1 | c.-118_-116delTTGinsCTT | upstream_gene_variant | ENSP00000495455.1 | ||||||
MSH2 | ENST00000644092.1 | n.-118_-116delTTGinsCTT | upstream_gene_variant | ENSP00000496351.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Hereditary cancer-predisposing syndrome Uncertain:1
The c.-118_-116delTTGinsCTT variant, located in in the 5' untranslated region (5’UTR) of the MSH2 gene, results from the deletion of 3 nucleotides and the insertion of 3 nucleotides at nucleotide positions -118 to -116. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.