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NM_000138.5(FBN1):c.1969_1970del (p.Met657fs) AND Marfan syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2021
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:
RCV002246092.1

Allele description [Variation Report for NM_000138.5(FBN1):c.1969_1970del (p.Met657fs)]

NM_000138.5(FBN1):c.1969_1970del (p.Met657fs)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Preferred name:
NM_000138.5(FBN1):c.1969_1970del (p.Met657fs)
HGVS:
  • NC_000015.10:g.48503930_48503931del
  • NG_008805.2:g.146858_146859del
  • NM_000138.5:c.1969_1970delMANE SELECT
  • NP_000129.3:p.Met657fs
  • LRG_778t1:c.1969_1970del
  • LRG_778:g.146858_146859del
  • NC_000015.9:g.48796127_48796128del
  • NM_000138.4:c.1969_1970del
Protein change:
M657fs
Links:
dbSNP: rs2141315944

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
SCV002025524Centre of Medical Genetics, University of Antwerp
criteria provided, single submitter

(Submitter's publication)		Pathogenic
(Mar 1, 2021) 		unknownresearch

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Centre of Medical Genetics, University of Antwerp, SCV002025524.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

PM2, PVS1, PP4

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

Last Updated: Dec 24, 2023