NM_000143.4(FH):c.443dup (p.Thr149fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 10, 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:: RCV000657292.1

Allele description [Variation Report for NM_000143.4(FH):c.443dup (p.Thr149fs)]

NM_000143.4(FH):c.443dup (p.Thr149fs)

Gene:

FH:fumarate hydratase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1q43

Genomic location:

Preferred name:

NM_000143.4(FH):c.443dup (p.Thr149fs)

HGVS:

NC_000001.11:g.241512079dup
NG_012338.1:g.12676dup
NM_000143.4:c.443dupMANE SELECT
NP_000134.2:p.Thr149fs
LRG_504:g.12676dup
NC_000001.10:g.241675379dup
NM_000143.3:c.443dupA

Protein change:

T149fs

Links:

dbSNP: rs1553341610

NCBI 1000 Genomes Browser:

rs1553341610

Molecular consequence:

NM_000143.4:c.443dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000779023	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Feb 10, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000779023

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Feb 10, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000779023.1

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

Description

This duplication of one nucleotide in FH is denoted c.443dupA at the cDNA level and p.Thr149AspfsX7 (T149DfsX7) at the protein level. The normal sequence, with the base that is duplicated in brackets, is ACTC[dupA]GACA. The duplication causes a frameshift which changes a Threonine to an Aspartic Acid at codon 149, and creates a premature stop codon at position 7 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

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

Last Updated: Apr 23, 2022

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