MLH1 c.545+4_545+5del

Variant ID: 3-37050398-TAC-T

NM_000249.3(MLH1):c.545+4_545+5del

This variant was identified in 3 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: 545+4_545+5del
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.xlsx, sheet 1
View BVdb publication page



Interval between the First Cancer and the Genetic Diagnosis in Lynch Syndrome Probands.

Internal Medicine (Tokyo, Japan)
Yamashita, Kentaro K; Fukushima, Hisayo H; Teramoto, Mizue M; Okita, Kenji K; Ishikawa, Aki A; Sakurai, Akihiro A; Akagi, Kiwamu K; Nakase, Hiroshi H
Publication Date: 2021-09-01

Variant appearance in text: MLH1: 545+4_545+5del
PubMed Link: 33746161
Variant Present in the following documents:
  • Main text
  • 1349-7235-60-2719.pdf
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: 545+4_545+5del
PubMed Link: 32849802
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 3
View BVdb publication page