NM_000138.5(FBN1):c.304T>C (p.Cys102Arg) AND Marfan syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 20, 2018
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:: RCV000766238.1

Allele description [Variation Report for NM_000138.5(FBN1):c.304T>C (p.Cys102Arg)]

NM_000138.5(FBN1):c.304T>C (p.Cys102Arg)

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.304T>C (p.Cys102Arg)

HGVS:

NC_000015.10:g.48610770A>G
NG_008805.2:g.40019T>C
NM_000138.5:c.304T>CMANE SELECT
NP_000129.3:p.Cys102Arg
NP_000129.3:p.Cys102Arg
LRG_778t1:c.304T>C
LRG_778:g.40019T>C
LRG_778p1:p.Cys102Arg
NC_000015.9:g.48902967A>G
NM_000138.4:c.304T>C

Protein change:

C102R

Links:

dbSNP: rs1566937712

NCBI 1000 Genomes Browser:

rs1566937712

Molecular consequence:

NM_000138.5:c.304T>C - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000897652	Institute of Human Genetics, University Medical Center Hamburg-Eppendorf	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 20, 2018)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] publication submitted

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000897652

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 20, 2018)

unknown

clinical testing

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

publication submitted

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.

Renner S, Schüler H, Alawi M, Kolbe V, Rybczynski M, Woitschach R, Sheikhzadeh S, Stark VC, Olfe J, Roser E, Seggewies FS, Mahlmann A, Hempel M, Hartmann MJ, Hillebrand M, Wieczorek D, Volk AE, Kloth K, Koch-Hogrebe M, Abou Jamra R, Mitter D, Altmüller J, et al.

Genet Med. 2019 Aug;21(8):1832-1841. doi: 10.1038/s41436-019-0435-z. Epub 2019 Jan 24.

PubMed [citation]

PMID:: 30675029

Details of each submission

From Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, SCV000897652.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Dec 11, 2022

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