NM_000138.5(FBN1):c.3220T>C (p.Cys1074Arg) AND Neonatal Marfan syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1994
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV000017900.28

Allele description [Variation Report for NM_000138.5(FBN1):c.3220T>C (p.Cys1074Arg)]

NM_000138.5(FBN1):c.3220T>C (p.Cys1074Arg)

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.3220T>C (p.Cys1074Arg)

HGVS:

NC_000015.10:g.48488230A>G
NG_008805.2:g.162559T>C
NM_000138.5:c.3220T>CMANE SELECT
NP_000129.3:p.Cys1074Arg
LRG_778:g.162559T>C
NC_000015.9:g.48780427A>G

Protein change:

C1074R; CYS1074ARG

Links:

OMIM: 134797.0016; dbSNP: rs137854465

Molecular consequence:

NM_000138.5:c.3220T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neonatal Marfan syndrome
Identifiers:: MONDO: MONDO:0017309; MedGen: C4016054

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000038179	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1994)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 8428751, 8136837

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000038179

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1994)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts.

Raghunath M, Superti-Furga A, Godfrey M, Steinmann B.

Hum Genet. 1993 Jan;90(5):511-5.

PubMed [citation]

PMID:: 8428751

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.

Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L.

Nat Genet. 1994 Jan;6(1):64-9.

PubMed [citation]

PMID:: 8136837

Details of each submission

From OMIM, SCV000038179.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a Swiss infant with a severe, neonatal form of Marfan syndrome (MFS; 154700) (Raghunath et al., 1993), Kainulainen et al. (1994) found a C1074R mutation in the FBN1 gene. As expected, neither of the parents carried the mutation. This mutation was previously designated as CYS176ARG.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 9, 2024

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