3-37020514-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_000249.4(MLH1):c.1038+51C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.001 in 1,606,212 control chromosomes in the GnomAD database, including 13 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★★).
Frequency
Consequence
NM_000249.4 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: 0.00544 AC: 827AN: 152160Hom.: 7 Cov.: 33
GnomAD3 exomes AF: 0.00137 AC: 332AN: 243074Hom.: 0 AF XY: 0.000880 AC XY: 116AN XY: 131804
GnomAD4 exome AF: 0.000539 AC: 784AN: 1453934Hom.: 6 Cov.: 30 AF XY: 0.000405 AC XY: 293AN XY: 723240
GnomAD4 genome AF: 0.00544 AC: 828AN: 152278Hom.: 7 Cov.: 33 AF XY: 0.00486 AC XY: 362AN XY: 74466
ClinVar
Submissions by phenotype
Hereditary cancer-predisposing syndrome Benign:3
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This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Colorectal cancer, hereditary nonpolyposis, type 2 Benign:2
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not provided Benign:2
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This variant is associated with the following publications: (PMID: 11726306) -
not specified Benign:1
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Lynch syndrome 1 Benign:1
MAF >1% in a specific ethnic group (African population) -
Muir-Torré syndrome Benign:1
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Hereditary nonpolyposis colorectal neoplasms Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at