U.S. flag

An official website of the United States government

NM_000143.4(FH):c.439dup (p.Thr147fs) AND Hereditary leiomyomatosis and renal cell cancer

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 17, 2017
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:
RCV000445601.3

Allele description [Variation Report for NM_000143.4(FH):c.439dup (p.Thr147fs)]

NM_000143.4(FH):c.439dup (p.Thr147fs)

Gene:
FH:fumarate hydratase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_000143.4(FH):c.439dup (p.Thr147fs)
HGVS:
  • NC_000001.11:g.241512084dup
  • NG_012338.1:g.12672dup
  • NM_000143.4:c.439dupMANE SELECT
  • NP_000134.2:p.Thr147fs
  • LRG_504:g.12672dup
  • NC_000001.10:g.241675384dup
  • NM_000143.3:c.439dupA
  • p.[Thr147Asnfs*9]
Protein change:
T147fs
Links:
dbSNP: rs1060499633
NCBI 1000 Genomes Browser:
rs1060499633
Molecular consequence:
  • NM_000143.4:c.439dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
3

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000537231Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
criteria provided, single submitter

(DGD Variant Analysis Guidelines)		Pathogenic
(Jan 17, 2017) 		germlineclinical testing

DGD_Variant_Analysis_Guidelines.docx

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000537231.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Sep 16, 2024