Full data view for gene MLH1


MLH1 variants classified by the InSiGHT consortium: criteria used for classification are available here. We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.
Information The variants shown are described using the NM_000249.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

ClassClinical     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Segregation     

Frequency     

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VIP     

Methylation     

Template     

Technique     

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Disease     

ID_report     

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Remarks     

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Data_av     

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Panel size     

Owner     
?/? 8i c.677+5G>A r.spl? p.? InSiGHT: 3 Unknown g.37053595G>A - - - MLH1_000869 Insight class: 3 InSiGHT - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 8i c.677+5G>A r.spl? p.? likely pathogenic Parent #1 g.37053595G>A - - - MLH1_000869 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
+?/. 8i c.677+5G>A r.spl? p.? likely pathogenic Unknown g.37053595G>A - - - MLH1_000869 - - - - Germline - - - 0 - DNA SEQ - Sanger method, screen date 2015-01-23 cancer, breast, CRC, HNPCC - - - F - Argentina - - 0 - - 1 Tamara Piñero
?/. 8i c.677+5G>A r.spl? p.? VUS Unknown g.37053595G>A - - - MLH1_000869 - - - - Germline - - - 0 - DNA SEQ - - ? - - CAPP2 study ? - Spain - - 0 - - 1 Juul Wijnen
+/. 8i c.677+5G>A r.spl? p.? pathogenic Parent #1 g.37053595G>A - G>A at 677 +5 - MLH1_000869 - - - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - Latin American/Caribbean - 0 - - 1 INSiGHT group
+?/. 8i c.677+5G>A r.(?) p.? likely pathogenic Unknown g.37053595G>A - 677+5G>A - MLH1_000869 WT MaxEntScan score: 9.22; Variant MaxEntScan score: 4.42; Difference in MaxEntScan score between variant and WT (%): -52 UMD, PubMed: Rossi 2017 - - Germline - - - 0 - DNA ? - - ? - UMD, PubMed: Rossi 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America - - Chile;Argentina - - 0 - - 2 Mev Dominguez Valentin
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