NM_000143.4(FH):c.663dup (p.Ser222fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 21, 2018
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:: RCV001025484.3

Allele description [Variation Report for NM_000143.4(FH):c.663dup (p.Ser222fs)]

NM_000143.4(FH):c.663dup (p.Ser222fs)

Gene:

FH:fumarate hydratase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1q43

Genomic location:

Preferred name:

NM_000143.4(FH):c.663dup (p.Ser222fs)

HGVS:

NC_000001.11:g.241508681dup
NG_012338.1:g.16077dup
NM_000143.4:c.663dupMANE SELECT
NP_000134.2:p.Ser222fs
LRG_504t1:c.663dup
LRG_504:g.16077dup
NC_000001.10:g.241671981dup
NM_000143.3:c.663dupA

Protein change:

S222fs

Links:

dbSNP: rs1573883195

NCBI 1000 Genomes Browser:

rs1573883195

Molecular consequence:

NM_000143.4:c.663dup - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001187681	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Nov 21, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001187681

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Nov 21, 2018)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001187681.4

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

Description

The c.663dupA pathogenic mutation, located in coding exon 5 of the FH gene, results from a duplication of A at nucleotide position 663, causing a translational frameshift with a predicted alternate stop codon (p.S222Ifs*28). 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: May 1, 2024

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