NM_000138.5(FBN1):c.2902_2920del (p.Thr968fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 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:: RCV000485476.1

Allele description [Variation Report for NM_000138.5(FBN1):c.2902_2920del (p.Thr968fs)]

NM_000138.5(FBN1):c.2902_2920del (p.Thr968fs)

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q21.1

Genomic location:

Preferred name:

NM_000138.5(FBN1):c.2902_2920del (p.Thr968fs)

HGVS:

NC_000015.10:g.48490014_48490032del
NG_008805.2:g.160758_160776del
NM_000138.5:c.2902_2920delMANE SELECT
NP_000129.3:p.Thr968fs
LRG_778:g.160758_160776del
NC_000015.9:g.48782211_48782229del
NM_000138.4:c.2902_2920del19
NM_000138.4:c.2902_2920delACCCTGCCTATTGCTGGCC

Protein change:

T968fs

Links:

dbSNP: rs1064793770

NCBI 1000 Genomes Browser:

rs1064793770

Molecular consequence:

NM_000138.5:c.2902_2920del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000566983	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jun 1, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000566983

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jun 1, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000566983.4

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

Description

The c.2902_2920del19 deletion in the FBN1 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The c.2902_2920del19 deletion causes aframeshift starting with codon Threonine 968, changes this amino acid to an Alanine residue, and creates apremature Stop codon at position 25 of the new reading frame, denoted p.Thr968AlafsX25. This deletionis predicted to cause loss of normal protein function either through protein truncation or nonsense-mediatedmRNA decay. The c.2902_2920del19 variant was not observed in approximately 6,500 individuals ofEuropean and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not acommon benign variant in these populations. We interpret c.2902_2920del19 as a pathogenic variant.

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

Last Updated: Nov 5, 2022

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