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NM_000138.5(FBN1):c.5788+4C>A AND Stiff skin syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000360488.6

Allele description [Variation Report for NM_000138.5(FBN1):c.5788+4C>A]

NM_000138.5(FBN1):c.5788+4C>A

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.5788+4C>A
HGVS:
  • NC_000015.10:g.48446702G>T
  • NG_008805.2:g.204087C>A
  • NM_000138.5:c.5788+4C>AMANE SELECT
  • LRG_778t1:c.5788+4C>A
  • LRG_778:g.204087C>A
  • NC_000015.9:g.48738899G>T
  • NM_000138.4:c.5788+4C>A
Links:
dbSNP: rs577301285
NCBI 1000 Genomes Browser:
rs577301285
Molecular consequence:
  • NM_000138.5:c.5788+4C>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Stiff skin syndrome (SSKS)
Identifiers:
MONDO: MONDO:0008492; MedGen: C1861456; OMIM: 184900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000392278Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000392278.2

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

Last Updated: Oct 20, 2024