NM_000143.4(FH):c.944_945del (p.Leu315fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 7, 2016
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:: RCV000291565.1

Allele description [Variation Report for NM_000143.4(FH):c.944_945del (p.Leu315fs)]

NM_000143.4(FH):c.944_945del (p.Leu315fs)

Gene:

FH:fumarate hydratase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q43

Genomic location:

Preferred name:

NM_000143.4(FH):c.944_945del (p.Leu315fs)

HGVS:

NC_000001.11:g.241504205_241504206del
NG_012338.1:g.20549_20550del
NM_000143.4:c.944_945delMANE SELECT
NP_000134.2:p.Leu315fs
LRG_504:g.20549_20550del
NC_000001.10:g.241667505_241667506del
NM_000143.3:c.944_945delTG

Protein change:

L315fs

Links:

dbSNP: rs886042044

NCBI 1000 Genomes Browser:

rs886042044

Molecular consequence:

NM_000143.4:c.944_945del - 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
SCV000330883	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Oct 7, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000330883

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Oct 7, 2016)

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, SCV000330883.6

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

Description

The c.944_945delTG variant in the FH gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This deletion causes a frameshift starting with codon Leucine 315, changes this amino acid to a Arginine residue and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Leu315ArgfsX4. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider c.944_945delTG 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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