NM_198253.3(TERT):c.887A>C (p.His296Pro) AND Hepatocellular carcinoma

Clinical significance:Uncertain significance (Last evaluated: Jun 1, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000503276.2

Allele description [Variation Report for NM_198253.3(TERT):c.887A>C (p.His296Pro)]

NM_198253.3(TERT):c.887A>C (p.His296Pro)

Gene:
TERT:telomerase reverse transcriptase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.33
Genomic location:
Preferred name:
NM_198253.3(TERT):c.887A>C (p.His296Pro)
HGVS:
  • NC_000005.10:g.1293999T>G
  • NG_009265.1:g.6049A>C
  • NM_001193376.3:c.887A>C
  • NM_198253.2:c.887A>C
  • NM_198253.3:c.887A>CMANE SELECT
  • NP_001180305.1:p.His296Pro
  • NP_937983.2:p.His296Pro
  • NP_937983.2:p.His296Pro
  • LRG_343t1:c.887A>C
  • LRG_343:g.6049A>C
  • LRG_343p1:p.His296Pro
  • NC_000005.9:g.1294114T>G
  • NM_001193376.1:c.887A>C
  • NR_149162.3:n.966A>C
  • NR_149163.3:n.966A>C
Protein change:
H296P
Links:
dbSNP: rs778187343
NCBI 1000 Genomes Browser:
rs778187343
Molecular consequence:
  • NM_001193376.3:c.887A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198253.2:c.887A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198253.3:c.887A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_149162.3:n.966A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149163.3:n.966A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hepatocellular carcinoma (HCC)
Synonyms:
Primary carcinoma of liver; Hepatoma; LIVER CELL CARCINOMA; See all synonyms [MedGen]
Identifiers:
MedGen: C2239176; OMIM: 114550; Human Phenotype Ontology: HP:0001402

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000328547Metabolic Liver Diseases Lab,Fondazione IRCCS Ca Granda Policlinico, University of Milanno assertion criteria providedUncertain significance
(Jun 1, 2016)
germlinecase-control

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
European Caucasoidgermlineyes1not providednot providednot providednot providedcase-control

Citations

PubMed

Telomerase reverse transcriptase germline mutations and hepatocellular carcinoma in patients with nonalcoholic fatty liver disease.

Donati B, Pietrelli A, Pingitore P, Dongiovanni P, Caddeo A, Walker L, Baselli G, Pelusi S, Rosso C, Vanni E, Daly A, Mancina RM, Grieco A, Miele L, Grimaudo S, Craxi A, Petta S, De Luca L, Maier S, Soardo G, Bugianesi E, Colli F, et al.

Cancer Med. 2017 Aug;6(8):1930-1940. doi: 10.1002/cam4.1078. Epub 2017 Jul 4.

PubMed [citation]
PMID:
28677271
PMCID:
PMC5548883

Details of each submission

From Metabolic Liver Diseases Lab,Fondazione IRCCS Ca Granda Policlinico, University of Milan, SCV000328547.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European Caucasoid1not providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

Support Center