NM_001999.4(FBN2):c.4100-2A>C AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Aug 28, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000788688.1

Allele description [Variation Report for NM_001999.4(FBN2):c.4100-2A>C]

NM_001999.4(FBN2):c.4100-2A>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.4100-2A>C
HGVS:
  • NC_000005.10:g.128333036T>G
  • NG_008750.1:g.210008A>C
  • NM_001999.4:c.4100-2A>CMANE SELECT
  • NC_000005.9:g.127668728T>G
  • NM_001999.3:c.4100-2A>C
Links:
dbSNP: rs1581222180
NCBI 1000 Genomes Browser:
rs1581222180
Molecular consequence:
  • NM_001999.4:c.4100-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000927885Blueprint Geneticscriteria provided, single submitter
Likely pathogenic
(Aug 28, 2018)
germlineclinical testing

Citation Link

Description

Patient analyzed with Aorta Panel

SCV000927885

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV000927885.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 27, 2020

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