NM_000138.4(FBN1):c.7383C>G (p.Asn2461Lys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 18, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000590273.1

Allele description [Variation Report for NM_000138.4(FBN1):c.7383C>G (p.Asn2461Lys)]

NM_000138.4(FBN1):c.7383C>G (p.Asn2461Lys)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.4(FBN1):c.7383C>G (p.Asn2461Lys)
HGVS:
  • NC_000015.10:g.48425439G>C
  • NG_008805.2:g.225350C>G
  • NM_000138.4:c.7383C>G
  • NP_000129.3:p.Asn2461Lys
  • LRG_778t1:c.7383C>G
  • LRG_778:g.225350C>G
  • LRG_778p1:p.Asn2461Lys
  • NC_000015.9:g.48717636G>C
Protein change:
N2461K
Links:
dbSNP: rs754047254
NCBI 1000 Genomes Browser:
rs754047254
Molecular consequence:
  • NM_000138.4:c.7383C>G - 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
SCV000695597Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Jul 18, 2017)
germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000695597.1

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

Description

Variant summary: The FBN1 c.7383C>G (p.Asn2461Lys) variant located in the EGF-like #38 domain (via InterPro) involves the alteration of a conserved nucleotide and 3/4 in silico tools (SNPsandGO not captured due to low reliability index) predict a damaging outcome. However, these predictions have yet to be functionally assessed. This variant was found in 1/121314 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic FBN1 variant (0.0001125). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. In addition, the variant does not alter or create a Cysteine, which plays a key role in proper FBN1 protein function. Therefore, because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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

Last Updated: Jun 14, 2021

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