NM_000143.4(FH):c.907_910del (p.Pro304fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 3, 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:: RCV002378559.2

Allele description [Variation Report for NM_000143.4(FH):c.907_910del (p.Pro304fs)]

NM_000143.4(FH):c.907_910del (p.Pro304fs)

Gene:

FH:fumarate hydratase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q43

Genomic location:

Preferred name:

NM_000143.4(FH):c.907_910del (p.Pro304fs)

HGVS:

NC_000001.11:g.241504242_241504245del
NG_012338.1:g.20512_20515del
NM_000143.4:c.907_910delMANE SELECT
NP_000134.2:p.Pro304Leufs
NP_000134.2:p.Pro304fs
LRG_504t1:c.905_908del
LRG_504:g.20512_20515del
LRG_504p1:p.Pro304Leufs
NC_000001.10:g.241667540_241667543del
NC_000001.10:g.241667542_241667545del
NM_000143.3:c.905_908delGCTT
NM_000143.3:c.907_910delTTGC

Protein change:

P304fs

Molecular consequence:

NM_000143.4:c.907_910del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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small ribosomal subunit protein mS29 isoform 2 [Mus musculus]
small ribosomal subunit protein mS29 isoform 2 [Mus musculus]
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002684660	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (May 3, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002684660

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(May 3, 2022)

germline

clinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002684660.2

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

Description

The c.907_910delTTGC pathogenic mutation, located in coding exon 7 of the FH gene, results from a deletion of 4 nucleotides at nucleotide positions 907 to 910, causing a translational frameshift with a predicted alternate stop codon (p.P304Lfs*24). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Oct 20, 2024

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