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NM_000138.5(FBN1):c.5885dup (p.Tyr1962Ter) AND Marfan syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 30, 2022
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:
RCV002468881.1

Allele description [Variation Report for NM_000138.5(FBN1):c.5885dup (p.Tyr1962Ter)]

NM_000138.5(FBN1):c.5885dup (p.Tyr1962Ter)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.5885dup (p.Tyr1962Ter)
HGVS:
  • NC_000015.10:g.48445408dup
  • NG_008805.2:g.205381dup
  • NM_000138.5:c.5885dupMANE SELECT
  • NM_001406716.1:c.5885dup
  • NP_000129.3:p.Tyr1962Ter
  • NP_000129.3:p.Tyr1962Terfs
  • NP_001393645.1:p.Tyr1962Terfs
  • LRG_778t1:c.5885dup
  • LRG_778:g.205381dup
  • LRG_778p1:p.Tyr1962Terfs
  • NC_000015.9:g.48737605dup
  • NM_000138.4:c.5885dup
Protein change:
Y1962*
Molecular consequence:
  • NM_001406716.1:c.5885dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000138.5:c.5885dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406716.1:c.5885dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Marfan syndrome (MFS)
Synonyms:
MARFAN SYNDROME, TYPE I; Marfan syndrome type 1; Marfan's syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007947; MedGen: C0024796; Orphanet: 284963; Orphanet: 558; OMIM: 154700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002765092Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 30, 2022) 		maternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV002765092.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

_x000D_ Criteria applied: PVS1, PM2_SUP, PP1

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

Last Updated: Dec 24, 2022