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NM_000138.5(FBN1):c.4577G>T (p.Cys1526Phe) AND Marfan syndrome

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:
RCV003314337.1

Allele description [Variation Report for NM_000138.5(FBN1):c.4577G>T (p.Cys1526Phe)]

NM_000138.5(FBN1):c.4577G>T (p.Cys1526Phe)

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.4577G>T (p.Cys1526Phe)
HGVS:
  • NC_000015.10:g.48468417C>A
  • NG_008805.2:g.182372G>T
  • NM_000138.5:c.4577G>TMANE SELECT
  • NM_001406716.1:c.4577G>T
  • NP_000129.3:p.Cys1526Phe
  • NP_000129.3:p.Cys1526Phe
  • NP_001393645.1:p.Cys1526Phe
  • LRG_778t1:c.4577G>T
  • LRG_778:g.182372G>T
  • LRG_778p1:p.Cys1526Phe
  • NC_000015.9:g.48760614C>A
  • NM_000138.4:c.4577G>T
Protein change:
C1526F
Molecular consequence:
  • NM_000138.5:c.4577G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406716.1:c.4577G>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV0040135843billion
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significanceunknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up.

Pepe G, Lapini I, Evangelisti L, Attanasio M, Giusti B, Lucarini L, Fattori R, Pellicanò G, Scrivanti M, Porciani MC, Abbate R, Gensini GF.

Mol Vis. 2007 Nov 29;13:2242-7.

PubMed [citation]
PMID:
18087243

Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome.

Hung CC, Lin SY, Lee CN, Cheng HY, Lin SP, Chen MR, Chen CP, Chang CH, Lin CY, Yu CC, Chiu HH, Cheng WF, Ho HN, Niu DM, Su YN.

Ann Hum Genet. 2009 Nov;73(Pt 6):559-67. doi: 10.1111/j.1469-1809.2009.00545.x.

PubMed [citation]
PMID:
19839986
See all PubMed Citations (3)

Details of each submission

From 3billion, SCV004013584.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.94; 3Cnet: 0.99). Different missense changes at the same codon (p.Cys1526Ser, p.Cys1526Tyr) have been reported to be associated with FBN1 related disorder (ClinVar ID: VCV000264314 / PMID: 18087243, 19839986). However the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as Uncertain significance according to the recommendation of ACMG/AMP guideline.

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

Last Updated: Jul 22, 2023