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NM_000143.4(FH):c.698G>A (p.Arg233His) 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:
RCV003330393.2

Allele description [Variation Report for NM_000143.4(FH):c.698G>A (p.Arg233His)]

NM_000143.4(FH):c.698G>A (p.Arg233His)

Gene:
FH:fumarate hydratase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_000143.4(FH):c.698G>A (p.Arg233His)
Other names:
R190H; p.R233H:CGT>CAT
HGVS:
  • NC_000001.11:g.241508643C>T
  • NG_012338.1:g.16112G>A
  • NM_000143.4:c.698G>AMANE SELECT
  • NP_000134.2:p.Arg233His
  • NP_000134.2:p.Arg233His
  • LRG_504t1:c.698G>A
  • LRG_504:g.16112G>A
  • LRG_504p1:p.Arg233His
  • NC_000001.10:g.241671943C>T
  • NM_000143.3:c.698G>A
  • P07954:p.Arg233His
  • p.[Arg233His]
Protein change:
R233H; ARG190HIS
Links:
UniProtKB: P07954#VAR_013501; OMIM: 136850.0007; dbSNP: rs121913123
NCBI 1000 Genomes Browser:
rs121913123
Molecular consequence:
  • NM_000143.4:c.698G>A - 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
SCV004037575GenomeConnect - 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, SCV004037575.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant classified as Pathogenic and reported on 03-05-2018 by 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: Oct 26, 2024