NM_000138.4(FBN1):c.6163+2dup AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 4, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000590701.1

Allele description [Variation Report for NM_000138.4(FBN1):c.6163+2dup]

NM_000138.4(FBN1):c.6163+2dup

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.4(FBN1):c.6163+2dup
HGVS:
  • NC_000015.10:g.48441719dup
  • NG_008805.2:g.209070dup
  • NM_000138.4:c.6163+2dup
  • LRG_778t1:c.6163+2dup
  • LRG_778:g.209070dup
  • NC_000015.9:g.48733915_48733916insA
  • NC_000015.9:g.48733916dup
  • NM_000138.4:c.6163+2dupT
Links:
dbSNP: rs794728315
NCBI 1000 Genomes Browser:
rs794728315
Molecular consequence:
  • NM_000138.4:c.6163+2dup - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000695577Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Aug 4, 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, SCV000695577.1

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

Description

Variant summary: The FBN1 c.6163+2dupT variant involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict a significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant of interest has not been found in a large, broad control population, ExAC in 121310 control chromosomes. In addition, one clinical diagnostic laboratory classified this variant as pathogenic. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, nor evaluated for functional impact by in vivo/vitro studies. Considering the in-silico predictions and the potential of this variant to destroy the canonical splice donor site in intron 50, thus affecting gene splicing, this variant is classified as possibly pathogenic, until more functional and clinical studies become available.

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

Last Updated: Jun 14, 2021

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