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NM_000143.4(FH):c.691A>C (p.Ile231Leu) AND Fumarase deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 20, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV001832810.5

Allele description [Variation Report for NM_000143.4(FH):c.691A>C (p.Ile231Leu)]

NM_000143.4(FH):c.691A>C (p.Ile231Leu)

Gene:
FH:fumarate hydratase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_000143.4(FH):c.691A>C (p.Ile231Leu)
HGVS:
  • NC_000001.11:g.241508650T>G
  • NG_012338.1:g.16105A>C
  • NM_000143.4:c.691A>CMANE SELECT
  • NP_000134.2:p.Ile231Leu
  • LRG_504t1:c.691A>C
  • LRG_504:g.16105A>C
  • NC_000001.10:g.241671950T>G
  • NM_000143.3:c.691A>C
Protein change:
I231L
Links:
dbSNP: rs1659991322
NCBI 1000 Genomes Browser:
rs1659991322
Molecular consequence:
  • NM_000143.4:c.691A>C - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002085852Natera, Inc.
no assertion criteria provided
Uncertain significance
(Jan 20, 2021) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002085852.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024