chr2-47783515-C-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000179.3(MSH6):c.260+22C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.17 in 1,391,608 control chromosomes in the GnomAD database, including 21,647 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★★).
Frequency
Consequence
NM_000179.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.130 AC: 19187AN: 148068Hom.: 1553 Cov.: 30
GnomAD3 exomes AF: 0.139 AC: 4248AN: 30570Hom.: 373 AF XY: 0.142 AC XY: 2216AN XY: 15592
GnomAD4 exome AF: 0.175 AC: 217153AN: 1243430Hom.: 20096 Cov.: 33 AF XY: 0.173 AC XY: 103601AN XY: 600298
GnomAD4 genome AF: 0.129 AC: 19185AN: 148178Hom.: 1551 Cov.: 30 AF XY: 0.126 AC XY: 9088AN XY: 72358
ClinVar
Submissions by phenotype
not specified Benign:5
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This variant is classified as Benign based on local population frequency. This variant was detected in 31% of patients studied by a panel of primary immunodeficiencies. Number of patients: 29. Only high quality variants are reported. -
not provided Uncertain:1Benign:2
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Lynch syndrome 5 Benign:1
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Lynch syndrome Benign:1
MAF >1% -
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