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

Recent activity

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gi|498923461|gb|KC750111.1|

Nucleotide
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Chloropsis hardwickii isolate Tuensang69 cytochrome c oxidase subunit I (COX1) gene, partial cds; mitochondrial
gi|2479779411|gb|OQ780821.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002817766	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Feb 28, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002817766

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Feb 28, 2023)

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, SCV002817766.2

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

#	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: Mar 11, 2023

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