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NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 21, 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:
RCV001843685.2

Allele description [Variation Report for NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr)]

NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr)

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.6064G>A (p.Ala2022Thr)
HGVS:
  • NC_000005.10:g.128300919C>T
  • NG_008750.1:g.242125G>A
  • NM_001999.4:c.6064G>AMANE SELECT
  • NP_001990.2:p.Ala2022Thr
  • NC_000005.9:g.127636611C>T
  • NM_001999.3:c.6064G>A
Protein change:
A2022T
Links:
dbSNP: rs545524318
NCBI 1000 Genomes Browser:
rs545524318
Molecular consequence:
  • NM_001999.4:c.6064G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002102780GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Nov 21, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV002102780.2

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

Description

Reported in a patient with spontaneous coronary artery dissection who also harbored a MYLK variant of uncertain significance (Antonutti et al., 2020); In silico analysis supports that this missense variant does not alter protein structure/function; Although located in a calcium-binding EGF-like domain of the FBN2 gene, it does not substitute or introduce a cysteine residue (Callewaert et al., 2009; Frederic et al., 2009); This variant is associated with the following publications: (PMID: 33190788)

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

Last Updated: May 1, 2024