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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ARM repeat superfamily protein, putative [Theobroma cacao]
ARM repeat superfamily protein, putative [Theobroma cacao]
gi|590653941|ref|XP_007033563.1||gn _WGS:ALXC|Thecc1EG019731p1

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000695523	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (Mar 27, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000695523

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Benign
(Mar 27, 2017)

germline

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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