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NM_000138.5(FBN1):c.7326T>G (p.Cys2442Trp) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
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:
RCV004797227.1

Allele description [Variation Report for NM_000138.5(FBN1):c.7326T>G (p.Cys2442Trp)]

NM_000138.5(FBN1):c.7326T>G (p.Cys2442Trp)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.7326T>G (p.Cys2442Trp)
HGVS:
  • NC_000015.10:g.48425743A>C
  • NG_008805.2:g.225046T>G
  • NM_000138.5:c.7326T>GMANE SELECT
  • NM_001406716.1:c.7326T>G
  • NP_000129.3:p.Cys2442Trp
  • NP_000129.3:p.Cys2442Trp
  • NP_001393645.1:p.Cys2442Trp
  • LRG_778t1:c.7326T>G
  • LRG_778:g.225046T>G
  • LRG_778p1:p.Cys2442Trp
  • NC_000015.9:g.48717940A>C
  • NM_000138.4:c.7326T>G
Protein change:
C2442W
Molecular consequence:
  • NM_000138.5:c.7326T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406716.1:c.7326T>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:
Stiff skin syndrome (SSKS)
Identifiers:
MONDO: MONDO:0008492; MedGen: C1861456; OMIM: 184900
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:
Acromicric dysplasia (ACMICD)
Synonyms:
Acromicric skeletal dysplasia
Identifiers:
MONDO: MONDO:0007055; MedGen: C0265287; Orphanet: 969; OMIM: 102370
Name:
Geleophysic dysplasia 2 (GPHYSD2)
Identifiers:
MONDO: MONDO:0013612; MedGen: C3280054; Orphanet: 2623; OMIM: 614185
Name:
Progeroid and marfanoid aspect-lipodystrophy syndrome
Synonyms:
MARFANOID-PROGEROID SYNDROME; MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME; Marfan lipodystrophy syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0014831; MedGen: C4310796; Orphanet: 300382; OMIM: 616914

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005418397Juno Genomics, Hangzhou Juno Genomics, Inc
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Juno Genomics, Hangzhou Juno Genomics, Inc, SCV005418397.1

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

Description

PM2_Supporting+PP2+PP3+PP4+PS4_Supporting

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

Last Updated: Nov 30, 2024