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NM_000143.4(FH):c.731T>C (p.Leu244Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 5, 2022
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:
RCV002386008.2

Allele description [Variation Report for NM_000143.4(FH):c.731T>C (p.Leu244Pro)]

NM_000143.4(FH):c.731T>C (p.Leu244Pro)

Gene:
FH:fumarate hydratase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_000143.4(FH):c.731T>C (p.Leu244Pro)
HGVS:
  • NC_000001.11:g.241508610A>G
  • NG_012338.1:g.16145T>C
  • NM_000143.4:c.731T>CMANE SELECT
  • NP_000134.2:p.Leu244Pro
  • NP_000134.2:p.Leu244Pro
  • LRG_504t1:c.731T>C
  • LRG_504:g.16145T>C
  • LRG_504p1:p.Leu244Pro
  • NC_000001.10:g.241671910A>G
  • NM_000143.3:c.731T>C
Protein change:
L244P
Links:
dbSNP: rs1060499636
NCBI 1000 Genomes Browser:
rs1060499636
Molecular consequence:
  • NM_000143.4:c.731T>C - 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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002668464Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 5, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002668464.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.L244P variant (also known as c.731T>C), located in coding exon 5 of the FH gene, results from a T to C substitution at nucleotide position 731. The leucine at codon 244 is replaced by proline, an amino acid with similar properties. This alteration has been observed in at least one individual with a personal and/or family history that is consistent with FH-related disease (Ambry internal data). Based on internal structural analysis, this variant is moderately destabilizing to the local structure (Ambry internal data). 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: Oct 26, 2024