rs1181142850
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 2P and 12B. PM2BP4_StrongBP6_Very_Strong
The NM_000251.3(MSH2):โc.1277-12A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000143 in 1,399,536 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 (โ โ ).
Frequency
Consequence
NM_000251.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000143 AC: 2AN: 1399536Hom.: 0 Cov.: 25 AF XY: 0.00 AC XY: 0AN XY: 700384
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Lynch syndrome 1 Benign:1
This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. -
Lynch syndrome Benign:1
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Hereditary nonpolyposis colorectal neoplasms Benign:1
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Hereditary cancer-predisposing syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at