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NM_000138.5(FBN1):c.4160dup (p.Tyr1387Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 28, 2023
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:
RCV002508594.2

Allele description [Variation Report for NM_000138.5(FBN1):c.4160dup (p.Tyr1387Ter)]

NM_000138.5(FBN1):c.4160dup (p.Tyr1387Ter)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.4160dup (p.Tyr1387Ter)
HGVS:
  • NC_000015.10:g.48474305dup
  • NG_008805.2:g.176484dup
  • NM_000138.5:c.4160dupMANE SELECT
  • NM_001406716.1:c.4160dup
  • NP_000129.3:p.Tyr1387Ter
  • NP_000129.3:p.Tyr1387Terfs
  • NP_001393645.1:p.Tyr1387Terfs
  • LRG_778t1:c.4160dup
  • LRG_778:g.176484dup
  • LRG_778p1:p.Tyr1387Terfs
  • NC_000015.9:g.48766502dup
  • NM_000138.4:c.4160dup
Protein change:
Y1387*
Molecular consequence:
  • NM_001406716.1:c.4160dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000138.5:c.4160dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406716.1:c.4160dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002817766GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Feb 28, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002817766.2

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 26272055)

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

Last Updated: Mar 11, 2023