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NM_000143.4(FH):c.521C>G (p.Pro174Arg) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV003483435.1

Allele description [Variation Report for NM_000143.4(FH):c.521C>G (p.Pro174Arg)]

NM_000143.4(FH):c.521C>G (p.Pro174Arg)

Gene:
FH:fumarate hydratase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_000143.4(FH):c.521C>G (p.Pro174Arg)
Other names:
P174R
HGVS:
  • NC_000001.11:g.241512001G>C
  • NG_012338.1:g.12754C>G
  • NM_000143.4:c.521C>GMANE SELECT
  • NP_000134.2:p.Pro174Arg
  • NP_000134.2:p.Pro174Arg
  • LRG_504t1:c.521C>G
  • LRG_504:g.12754C>G
  • LRG_504p1:p.Pro174Arg
  • NC_000001.10:g.241675301G>C
  • NM_000143.3:c.521C>G
Protein change:
PRO174ARG
Links:
OMIM: 136850.0010; dbSNP: rs199822819
NCBI 1000 Genomes Browser:
rs199822819
Molecular consequence:
  • NM_000143.4:c.521C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Fumarase deficiency (FMRD)
Synonyms:
Fumaric aciduria; Fumarate Hydratase Deficiency
Identifiers:
MONDO: MONDO:0011730; MedGen: C0342770; Orphanet: 24; OMIM: 606812
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004228558GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV004228558.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Pathogenic and reported on 05-13-2019 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024