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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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000566983GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jun 1, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000566983.4

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

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

Last Updated: Nov 5, 2022