NM_001999.4(FBN2):c.7317T>C (p.His2439=) AND Cardiovascular phenotype

Clinical significance:Likely benign (Last evaluated: Jan 12, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000618963.1

Allele description [Variation Report for NM_001999.4(FBN2):c.7317T>C (p.His2439=)]

NM_001999.4(FBN2):c.7317T>C (p.His2439=)

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.7317T>C (p.His2439=)
HGVS:
  • NC_000005.10:g.128278663A>G
  • NG_008750.1:g.264381T>C
  • NM_001999.4:c.7317T>CMANE SELECT
  • NP_001990.2:p.His2439=
  • NC_000005.9:g.127614355A>G
  • NM_001999.3:c.7317T>C
Links:
dbSNP: rs1554117089
NCBI 1000 Genomes Browser:
rs1554117089
Molecular consequence:
  • NM_001999.4:c.7317T>C - synonymous variant - [Sequence Ontology: SO:0001819]
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
SCV000738950Ambry Geneticscriteria provided, single submitter
Likely benign
(Jan 12, 2016)
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, SCV000738950.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Dec 7, 2020

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