U.S. flag

An official website of the United States government

NM_000143.4(FH):c.1105C>T (p.Pro369Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 30, 2023
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:
RCV003341526.2

Allele description [Variation Report for NM_000143.4(FH):c.1105C>T (p.Pro369Ser)]

NM_000143.4(FH):c.1105C>T (p.Pro369Ser)

Gene:
FH:fumarate hydratase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_000143.4(FH):c.1105C>T (p.Pro369Ser)
HGVS:
  • NC_000001.11:g.241504045G>A
  • NG_012338.1:g.20710C>T
  • NM_000143.4:c.1105C>TMANE SELECT
  • NP_000134.2:p.Pro369Ser
  • NP_000134.2:p.Pro369Ser
  • LRG_504t1:c.1105C>T
  • LRG_504:g.20710C>T
  • LRG_504p1:p.Pro369Ser
  • NC_000001.10:g.241667345G>A
  • NM_000143.3:c.1105C>T
Protein change:
P369S
Molecular consequence:
  • NM_000143.4:c.1105C>T - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004059157Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 30, 2023) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Fumaric aciduria: mild phenotype in a 8-year-old girl with novel mutations.

Maradin M, Fumić K, Hansikova H, Tesarova M, Wenchich L, Dorner S, Sarnavka V, Zeman J, Barić I.

J Inherit Metab Dis. 2006 Oct;29(5):683. Epub 2006 Aug 5.

PubMed [citation]
PMID:
16972175

Differential metabolic consequences of fumarate hydratase and respiratory chain defects.

Raimundo N, Ahtinen J, Fumić K, Barić I, Remes AM, Renkonen R, Lapatto R, Suomalainen A.

Biochim Biophys Acta. 2008 May;1782(5):287-94. doi: 10.1016/j.bbadis.2008.01.008. Epub 2008 Feb 14.

PubMed [citation]
PMID:
18313410
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV004059157.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

The p.P369S variant (also known as c.1105C>T), located in coding exon 7 of the FH gene, results from a C to T substitution at nucleotide position 1105. The proline at codon 369 is replaced by serine, an amino acid with similar properties. This variant has been confirmed in trans with another variant of uncertain significance in FH (c.1158_1160delAGT) in an individual diagnosed with FH deficiency (Maradin M et al. J Inherit Metab Dis, 2006 Oct;29:683). In addition, patient fibroblasts with these two variants in compound heterozygosity were reported to demonstrate impaired FH protein expression and localization (Raimundo N et al. Biochim Biophys Acta, 2008 May;1782:287-94). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024