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NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV003227610.9

Allele description [Variation Report for NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)]

NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)
HGVS:
  • NC_000015.10:g.48489907G>C
  • NG_008805.2:g.160882C>G
  • NM_000138.5:c.3026C>GMANE SELECT
  • NP_000129.3:p.Pro1009Arg
  • NP_000129.3:p.Pro1009Arg
  • LRG_778t1:c.3026C>G
  • LRG_778:g.160882C>G
  • LRG_778p1:p.Pro1009Arg
  • NC_000015.9:g.48782104G>C
  • NM_000138.4:c.3026C>G
Protein change:
P1009R
Links:
dbSNP: rs148076256
NCBI 1000 Genomes Browser:
rs148076256
Molecular consequence:
  • NM_000138.5:c.3026C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ectopia lentis 1, isolated, autosomal dominant (ECTOL1)
Identifiers:
MONDO: MONDO:0007514; MedGen: C3541518; Orphanet: 1885; OMIM: 129600
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
Name:
MASS syndrome (OCTD)
Synonyms:
Overlap connective tissue disease
Identifiers:
MONDO: MONDO:0011431; MedGen: C1858556; OMIM: 604308
Name:
Weill-Marchesani syndrome 2, dominant
Synonyms:
Weill-Marchesani Syndrome, Autosomal Dominant; Weill-Marchesani syndrome 2; Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome
Identifiers:
MONDO: MONDO:0012013; MedGen: C1869115; OMIM: 608328
Name:
Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:
Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:
MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003925465GenomeConnect, ClinGen
no classification provided
not providedmaternalphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV003925465.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 10-24-2019 by GeneDx. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 16, 2024