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NM_000143.4(FH):c.1056_1091dup (p.Gly364_Ser365insLeuGlyGluLeuIleLeuProGluAsnGluProGly) AND Hereditary leiomyomatosis and renal cell cancer

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 9, 2021
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:
RCV002288296.3

Allele description [Variation Report for NM_000143.4(FH):c.1056_1091dup (p.Gly364_Ser365insLeuGlyGluLeuIleLeuProGluAsnGluProGly)]

NM_000143.4(FH):c.1056_1091dup (p.Gly364_Ser365insLeuGlyGluLeuIleLeuProGluAsnGluProGly)

Gene:
FH:fumarate hydratase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_000143.4(FH):c.1056_1091dup (p.Gly364_Ser365insLeuGlyGluLeuIleLeuProGluAsnGluProGly)
HGVS:
  • NC_000001.11:g.241504063_241504098dup
  • NG_012338.1:g.20661_20696dup
  • NM_000143.4:c.1056_1091dupMANE SELECT
  • NP_000134.2:p.Gly364_Ser365insLeuGlyGluLeuIleLeuProGluAsnGluProGly
  • NP_000134.2:p.Gly364_Ser365insLeuGlyGluLeuIleLeuProGluAsnGluProGly
  • LRG_504t1:c.1052_1087dup
  • LRG_504:g.20661_20696dup
  • LRG_504p1:p.Gly364_Ser365insLeuGlyGluLeuIleLeuProGluAsnGluProGly
  • NC_000001.10:g.241667363_241667398dup
  • NM_000143.3:c.1052_1087dup
Molecular consequence:
  • NM_000143.4:c.1056_1091dup - inframe_insertion - [Sequence Ontology: SO:0001821]
Observations:
1

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002579754MGZ Medical Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 9, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical 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 MGZ Medical Genetics Center, SCV002579754.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 15, 2024