FH c.1097G>A ;(p.S366N)

Variant ID: 1-241667353-C-T

NM_000143.3(FH):c.1097G>A;(p.S366N)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A
Publication Date: 2020-11

Variant appearance in text: FH: 1097G>A; Ser366Asn
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 5
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 4
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



The functional landscape of the human phosphoproteome.

Nature Biotechnology
Ochoa, David D; Jarnuczak, Andrew F AF; Viéitez, Cristina C; Gehre, Maja M; Soucheray, Margaret M; Mateus, André A; Kleefeldt, Askar A AA; Hill, Anthony A; Garcia-Alonso, Luz L; Stein, Frank F; Krogan, Nevan J NJ; Savitski, Mikhail M MM; Swaney, Danielle L DL; Vizcaíno, Juan A JA; Noh, Kyung-Min KM; Beltrao, Pedro P
Publication Date: 2020-03

Variant appearance in text: FH: 1097G>A; Ser366Asn
PubMed Link: 31819260
Variant Present in the following documents:
  • EMS84831-supplement-Table_S5.xlsx, sheet 1
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: FH: 1097G>A; S366N
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Incidence of succinate dehydrogenase and fumarate hydratase-deficient renal cell carcinoma based on immunohistochemical screening with SDHA/SDHB and FH/2SC.

Human Pathology
Gupta, Sounak S; Swanson, Amy A AA; Chen, Ying-Bei YB; Lopez, Tilcia T; Milosevic, Dragana D; Kipp, Benjamin R BR; Leibovich, Bradley C BC; Thompson, R Houston RH; Herrera-Hernandez, Loren L; Cheville, John C JC; Jimenez, Rafael E RE
Publication Date: 2019-09

Variant appearance in text: FH: 1097G>A; S366N
PubMed Link: 31299266
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: FH: 1097G>A; Ser366Asn
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Structural basis of fumarate hydratase deficiency.

Journal Of Inherited Metabolic Disease
Picaud, Sarah S; Kavanagh, Kathryn L KL; Yue, Wyatt W WW; Lee, Wen Hwa WH; Muller-Knapp, Susanne S; Gileadi, Opher O; Sacchettini, James J; Oppermann, Udo U
Publication Date: 2011-06

Variant appearance in text: FH: 1097G>A; S366N
PubMed Link: 21445611
Variant Present in the following documents:
  • Main text
  • 10545_2011_Article_9294.pdf
View BVdb publication page



The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.

Bmc Medical Genetics
Bayley, Jean-Pierre JP; Launonen, Virpi V; Tomlinson, Ian P M IP
Publication Date: 2008-03-25

Variant appearance in text: FH: Ser366Asn
PubMed Link: 18366737
Variant Present in the following documents:
  • 1471-2350-9-20.pdf
View BVdb publication page