MLH1 c.790+2T>A

Variant ID: 3-37056037-T-A

NM_000249.3(MLH1):c.790+2T>A

This variant was identified in 5 publications

View GRCh38 version.




Publications:


APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
Publication Date: 2023-02-26

Variant appearance in text: MLH1: 790+2T>A
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MLH1: 790+2T>A
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Universal Screening for Lynch Syndrome Compared with Pedigree-Based Screening: 10-Year Experience in a Tertiary Hospital.

Cancer Research And Treatment
Kim, Min Hyun MH; Kim, Duck-Woo DW; Lee, Hye Seung HS; Bang, Su Kyung SK; Seo, Soo Hyun SH; Park, Kyung Un KU; Oh, Heung-Kwon HK; Kang, Sung-Bum SB
Publication Date: 2022-03-21

Variant appearance in text: MLH1: 790+2T>A
PubMed Link: 35313100
Variant Present in the following documents:
  • crt-2021-1512.pdf
View BVdb publication page



Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.

Scientific Reports
Choi, Yoon Young YY; Shin, Su-Jin SJ; Lee, Jae Eun JE; Madlensky, Lisa L; Lee, Seung-Tae ST; Park, Ji Soo JS; Jo, Jeong-Hyeon JH; Kim, Hyunki H; Nachmanson, Daniela D; Xu, Xiaojun X; Noh, Sung Hoon SH; Cheong, Jae-Ho JH; Harismendy, Olivier O
Publication Date: 2021-07-20

Variant appearance in text: MLH1: 790+2T>A
PubMed Link: 34285288
Variant Present in the following documents:
  • 41598_2021_94292_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Frontiers In Genetics
Thompson, Bryony A BA; Walters, Rhiannon R; Parsons, Michael T MT; Dumenil, Troy T; Drost, Mark M; Tiersma, Yvonne Y; Lindor, Noralane M NM; Tavtigian, Sean V SV; de Wind, Niels N; Spurdle, Amanda B AB; ,
Publication Date: 2020

Variant appearance in text: MLH1: 790+2T>A
PubMed Link: 32849802
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 1
  • Image_1.pdf
  • Data_Sheet_1.xlsx, sheet 3
View BVdb publication page