NM_001999.4(FBN2):c.6153C>T (p.Ser2051=) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 15, 2017
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:: RCV000579305.1

Allele description [Variation Report for NM_001999.4(FBN2):c.6153C>T (p.Ser2051=)]

NM_001999.4(FBN2):c.6153C>T (p.Ser2051=)

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.6153C>T (p.Ser2051=)

HGVS:

NC_000005.10:g.128300830G>A
NG_008750.1:g.242214C>T
NM_001999.4:c.6153C>TMANE SELECT
NP_001990.2:p.Ser2051=
NC_000005.9:g.127636522G>A
NM_001999.3:c.6153C>T

Links:

dbSNP: rs888075207

NCBI 1000 Genomes Browser:

rs888075207

Molecular consequence:

NM_001999.4:c.6153C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000680595	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Dec 15, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000680595

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Dec 15, 2017)

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, SCV000680595.2

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

Description

A variant of uncertain significance has been identified in the FBN2 gene. The c.6153 C>T variant results in asynonymous change of the residue S2051 in the FBN2 gene. This variant has not been published as pathogenic orbeen reported as benign to our knowledge. However, c.6153 C>T (S2051S) has been identified in one otherindividual referred for Marfan/TAAD genetic testing at GeneDx. The c.6153 C>T (S2051S) variant was observed in atotal of 4/277,112 (0.001%) alleles from individuals of varying ethnic backgrounds in large population cohorts (Lek etal., 2016). Although this substitution occurs at a nucleotide position that is not conserved, where thymine (T) is thewild-type nucleotide in multiple species, in silico splicing algorithms predict this variant may create a cryptic splicedonor site upstream of the natural splice donor site, leading to abnormal splicing in the FBN2 gene. However, in theabsence of functional mRNA studies, the physiological consequence of this variant on splicing cannot be preciselydetermined.

#	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

ClinVar

Relating variation to medicine