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NM_000143.4(FH):c.157G>T (p.Glu53Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 15, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002402222.3

Allele description [Variation Report for NM_000143.4(FH):c.157G>T (p.Glu53Ter)]

NM_000143.4(FH):c.157G>T (p.Glu53Ter)

Gene:
FH:fumarate hydratase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_000143.4(FH):c.157G>T (p.Glu53Ter)
HGVS:
  • NC_000001.11:g.241517292C>A
  • NG_012338.1:g.7463G>T
  • NM_000143.4:c.157G>TMANE SELECT
  • NP_000134.2:p.Glu53Ter
  • NP_000134.2:p.Glu53Ter
  • LRG_504t1:c.157G>T
  • LRG_504:g.7463G>T
  • LRG_504p1:p.Glu53Ter
  • NC_000001.10:g.241680592C>A
  • NM_000143.3:c.157G>T
  • p.[Glu53*]
Protein change:
E53*
Links:
dbSNP: rs863224013
NCBI 1000 Genomes Browser:
rs863224013
Molecular consequence:
  • NM_000143.4:c.157G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002709520Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Dec 15, 2021) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.

Smit DL, Mensenkamp AR, Badeloe S, Breuning MH, Simon ME, van Spaendonck KY, Aalfs CM, Post JG, Shanley S, Krapels IP, Hoefsloot LH, van Moorselaar RJ, Starink TM, Bayley JP, Frank J, van Steensel MA, Menko FH.

Clin Genet. 2011 Jan;79(1):49-59. doi: 10.1111/j.1399-0004.2010.01486.x.

PubMed [citation]
PMID:
20618355

Details of each submission

From Ambry Genetics, SCV002709520.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.E53* pathogenic mutation (also known as c.157G>T), located in coding exon 2 of the FH gene, results from a G to T substitution at nucleotide position 157. This changes the amino acid from a glutamic acid to a stop codon within coding exon 2. This alteration has been observed in multiple individuals with a personal and/or family history that is consistent with FH-related disease (Smit DL et al. Clin Genet, 2011 Jan;79:49-59; Ambry internal data). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024