NM_001999.4(FBN2):c.6638-2A>C AND Cardiovascular phenotype

Clinical significance:Likely pathogenic (Last evaluated: Dec 21, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000241996.1

Allele description [Variation Report for NM_001999.4(FBN2):c.6638-2A>C]

NM_001999.4(FBN2):c.6638-2A>C

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.6638-2A>C
HGVS:
  • NC_000005.10:g.128288559T>G
  • NG_008750.1:g.254485A>C
  • NM_001999.4:c.6638-2A>CMANE SELECT
  • NC_000005.9:g.127624251T>G
  • NM_001999.3:c.6638-2A>C
Links:
dbSNP: rs886039200
NCBI 1000 Genomes Browser:
rs886039200
Molecular consequence:
  • NM_001999.4:c.6638-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000320609Ambry Geneticscriteria provided, single submitter
Likely pathogenic
(Dec 21, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000320609.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Thec.6638-2A>Cintronic variant results from an A to C substitution two nucleotides upstream from codingexon53 in theFBN2gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP),NHLBIExome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This nucleotide position is highly conserved in available vertebrate species. Using theBDGPandESEfindersplice site prediction tools, this alteration is predicted toabolish the native splice acceptor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice acceptor site are typically deleterious in nature (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007.Genet Med. 2008;10:294). As such, the c.6638-2A>C variant is classified as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 7, 2020

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