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NM_000143.4(FH):c.1303G>A (p.Val435Met) AND Hereditary leiomyomatosis and renal cell cancer

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 31, 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:
RCV003325184.2

Allele description [Variation Report for NM_000143.4(FH):c.1303G>A (p.Val435Met)]

NM_000143.4(FH):c.1303G>A (p.Val435Met)

Gene:
FH:fumarate hydratase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_000143.4(FH):c.1303G>A (p.Val435Met)
HGVS:
  • NC_000001.11:g.241500524C>T
  • NG_012338.1:g.24231G>A
  • NM_000143.4:c.1303G>AMANE SELECT
  • NP_000134.2:p.Val435Met
  • NP_000134.2:p.Val435Met
  • LRG_504t1:c.1303G>A
  • LRG_504:g.24231G>A
  • LRG_504p1:p.Val435Met
  • NC_000001.10:g.241663824C>T
  • NM_000143.3:c.1303G>A
Protein change:
V435M
Links:
dbSNP: rs147528200
NCBI 1000 Genomes Browser:
rs147528200
Molecular consequence:
  • NM_000143.4:c.1303G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary leiomyomatosis and renal cell cancer
Synonyms:
Reed syndrome; Multiple cutaneous and uterine leiomyomatosis; Cutaneous leiomyomata with uterine leiomyomata; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007888; MedGen: C1708350; Orphanet: 523; OMIM: 150800; Human Phenotype Ontology: HP:0007437

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004031172St. Jude Molecular Pathology, St. Jude Children's Research Hospital
criteria provided, single submitter

(St. Jude Assertion Criteria 2020)		Uncertain significance
(May 31, 2023) 		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 St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV004031172.1

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

Description

The FH c.1303G>A (p.Val435Met) missense change has a maximum subpopulation frequency of 0.06% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org). The in silico tool REVEL predicts a deleterious effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with hereditary leiomyomatosis and renal cell cancer (HLRCC) or fumarase deficiency. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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

Last Updated: Sep 16, 2024