NM_000143.4(FH):c.646G>T (p.Asp216Tyr) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 19, 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:: RCV002356180.2

Allele description [Variation Report for NM_000143.4(FH):c.646G>T (p.Asp216Tyr)]

NM_000143.4(FH):c.646G>T (p.Asp216Tyr)

Gene:

FH:fumarate hydratase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

Preferred name:

NM_000143.4(FH):c.646G>T (p.Asp216Tyr)

HGVS:

NC_000001.11:g.241508695C>A
NG_012338.1:g.16060G>T
NM_000143.4:c.646G>TMANE SELECT
NP_000134.2:p.Asp216Tyr
NP_000134.2:p.Asp216Tyr
LRG_504t1:c.646G>T
LRG_504:g.16060G>T
LRG_504p1:p.Asp216Tyr
NC_000001.10:g.241671995C>A
NM_000143.3:c.646G>T

Protein change:

D216Y

Molecular consequence:

NM_000143.4:c.646G>T - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

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JGI_XZT5498.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7583961 3',...
JGI_XZT5498.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7583961 3', mRNA sequence
gi|71579382|gnl|dbEST|30409754|gb|D 30.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002654755	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 19, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002654755

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 19, 2022)

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, SCV002654755.2

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

Description

The p.D216Y variant (also known as c.646G>T), located in coding exon 5 of the FH gene, results from a G to T substitution at nucleotide position 646. The aspartic acid at codon 216 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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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