NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Feb 21, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001545405.2

Allele description [Variation Report for NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser)]

NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser)

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.5045A>C (p.Tyr1682Ser)
HGVS:
  • NC_000005.10:g.128311329T>G
  • NG_008750.1:g.231715A>C
  • NM_001999.4:c.5045A>CMANE SELECT
  • NP_001990.2:p.Tyr1682Ser
  • NC_000005.9:g.127647021T>G
  • NM_001999.3:c.5045A>C
Protein change:
Y1682S
Links:
dbSNP: rs769474473
NCBI 1000 Genomes Browser:
rs769474473
Molecular consequence:
  • NM_001999.4:c.5045A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001764731GeneDxcriteria provided, single submitter
Uncertain significance
(Feb 21, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001764731.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar (ClinVar Variant ID# 547360; Landrum et al., 2016); Although located in a calcium-binding EGF-like domain of the FBN2 gene, it does not affect a cysteine residue within this domain; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN2 related disorders (Collod-Beroud et al., 2003; Frederic et al., 2009)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 23, 2021

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