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:

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

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

FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000138.4(FBN1):c.7383C>G (p.Asn2461Lys)
  • 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:
dbSNP: rs754047254
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000138.4:c.7383C>G - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
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


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.

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

Last Updated: Jun 14, 2021

Support Center