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FBN1:c.3589+62_3589+71del AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Mar 27, 2017
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:
RCV000586337.10

Allele description [Variation Report for FBN1:c.3589+62_3589+71del]

FBN1:c.3589+62_3589+71del

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
FBN1:c.3589+62_3589+71del
HGVS:
  • NC_000015.10:g.48487008CATAA[2]
  • NG_008805.2:g.163766GTTAT[2]
  • NM_000138.5:c.3589+52GTTAT[2]MANE SELECT
  • LRG_778:g.163766GTTAT[2]
  • NC_000015.9:g.48779205CATAA[2]
  • NM_000138.4:c.3589+62_3589+71del
Links:
dbSNP: rs72132658
NCBI 1000 Genomes Browser:
rs72132658
Molecular consequence:
  • NM_000138.5:c.3589+52GTTAT[2] - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000695523Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Benign
(Mar 27, 2017) 		germlineclinical testing

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000695523.3

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

Description

Variant summary: The FBN1 c.3589+62_3589+71del variant involves the alteration of multiple non-conserved intronic nucleotides, which are not located in any well-known splicing site. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 9/30506 control chromosomes at a frequency of 0.000295 (gnomAD), which is more than 2 times the estimated maximal expected allele frequency of a pathogenic FBN1 variant (0.0001125), suggesting this variant is likely a benign polymorphism. In addition, one co-occurrence of this variant and a pathogenic FBN1 variant (c.7754T>C/p.Ile2585Thr) has been reported in one patient tested in our laboratory. Taken together, this variant is classified as benign.

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

Last Updated: Oct 26, 2024