NM_000138.5(FBN1):c.5800T>C (p.Cys1934Arg) AND Marfan syndrome

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Mar 1, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002246040.2

Allele description [Variation Report for NM_000138.5(FBN1):c.5800T>C (p.Cys1934Arg)]

NM_000138.5(FBN1):c.5800T>C (p.Cys1934Arg)

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Preferred name:

NM_000138.5(FBN1):c.5800T>C (p.Cys1934Arg)

HGVS:

NC_000015.10:g.48445493A>G
NG_008805.2:g.205296T>C
NM_000138.5:c.5800T>CMANE SELECT
NP_000129.3:p.Cys1934Arg
LRG_778t1:c.5800T>C
LRG_778:g.205296T>C
NC_000015.9:g.48737690A>G
NM_000138.4:c.5800T>C

Protein change:

C1934R

Links:

dbSNP: rs1555395767

Observations:

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
SCV002025362	Centre of Medical Genetics, University of Antwerp	criteria provided, single submitter (Submitter's publication)	Pathogenic (Mar 1, 2021)	unknown	research	Citation Link,
SCV004037244	Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 14, 2019)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002025362

Centre of Medical Genetics, University of Antwerp

criteria provided, single submitter

(Submitter's publication)

Pathogenic
(Mar 1, 2021)

unknown

research

Citation Link,

SCV004037244

Dr. med. U. Finckh, Human Genetics, Eurofins MVZ

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 14, 2019)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	2	1	not provided	not provided	not provided	clinical testing, research

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 Centre of Medical Genetics, University of Antwerp, SCV002025362.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

Description

PM2, PVS2, PP4

#	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

From Dr. med. U. Finckh, Human Genetics, Eurofins MVZ, SCV004037244.1

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

Description

The variant is not present in gnomAD. It was detected in an individual with suspected Marfan syndrome. Several other missense variants of this codon have been reported to be pathogenic. In silico analysis strongly support a damaging effect of the variant. We therefore classify it as likely pathogenic.

#	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		2	not provided	1	not provided

Last Updated: Dec 24, 2023

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