NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 12, 2024
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:: RCV000197367.2

Allele description [Variation Report for NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr)]

NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr)

Gene:

FBN2:fibrillin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q23.3

Genomic location:

Preferred name:

NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr)

HGVS:

NC_000005.10:g.128338002C>T
NG_008750.1:g.205042G>A
NM_001999.4:c.3593G>AMANE SELECT
NP_001990.2:p.Cys1198Tyr
NC_000005.9:g.127673694C>T
NM_001999.3:c.3593G>A
P35556:p.Cys1198Tyr
p.C1198Y

Protein change:

C1198Y

Links:

UniProtKB: P35556#VAR_054984; dbSNP: rs863223567

NCBI 1000 Genomes Browser:

rs863223567

Molecular consequence:

NM_001999.4:c.3593G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000250196	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Aug 12, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000250196

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Aug 12, 2024)

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, SCV000250196.11

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

Description

The C1198Y variant in the FBN2 gene, published as C1197Y due to alternative nomenclature, has been reported previously in a patient with congenital contractural arachnodactyly, however no segregation or control population data was reported (PMID: 11754102); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 19006240, 18767143, 11754102)

#	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: Sep 29, 2024

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