NM_000143.4(FH):c.1209del (p.Phe403fs) AND Fumarase deficiency

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 12, 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:: RCV003463832.1

Allele description [Variation Report for NM_000143.4(FH):c.1209del (p.Phe403fs)]

NM_000143.4(FH):c.1209del (p.Phe403fs)

Gene:

FH:fumarate hydratase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q43

Genomic location:

Preferred name:

NM_000143.4(FH):c.1209del (p.Phe403fs)

HGVS:

NC_000001.11:g.241502473del
NG_012338.1:g.22285del
NM_000143.4:c.1209delMANE SELECT
NP_000134.2:p.Phe403fs
LRG_504:g.22285del
NC_000001.10:g.241665770del
NC_000001.10:g.241665773del
NM_000143.3:c.1209delT
p.[Phe403Leufs*3]

Protein change:

F403fs

Links:

dbSNP: rs1060499644

NCBI 1000 Genomes Browser:

rs1060499644

Molecular consequence:

NM_000143.4:c.1209del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004197386	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 12, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004197386

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 12, 2022)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV004197386.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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