NM_001999.4(FBN2):c.1610A>G (p.Asp537Gly) AND Congenital contractural arachnodactyly

This record was updated by the submitter. Please see the current version.

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:: RCV000766257.1

Allele description

NM_001999.4(FBN2):c.1610A>G (p.Asp537Gly)

Gene:

FBN2:fibrillin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q23.3

Genomic location:

Preferred name:

NM_001999.4(FBN2):c.1610A>G (p.Asp537Gly)

HGVS:

NC_000005.10:g.128378884T>C
NG_008750.1:g.164159A>G
NM_001999.4:c.1610A>GMANE SELECT
NP_001990.2:p.Asp537Gly
NC_000005.9:g.127714577T>C
NM_001999.3:c.1610A>G

Protein change:

D537G

Links:

dbSNP: rs565227443

NCBI 1000 Genomes Browser:

rs565227443

Molecular consequence:

NM_001999.4:c.1610A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital contractural arachnodactyly (CCA)
Synonyms:: Arachnodactyly, contractural Beals type; Contractures, multiple with arachnodactyly; Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007363; MedGen: C0220668; Orphanet: 115; OMIM: 121050

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000897675	Institute of Human Genetics, University Medical Center Hamburg-Eppendorf	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 20, 2018)	paternal	research	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

SCV000897675

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 20, 2018)

paternal

research

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	paternal	yes	1	not provided	not provided	1	yes	research

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, SCV000897675.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	yes	research	PubMed (1)

Description

Co-segregation with disease in 4 affected family members; Differential diagnosis for this patient is CCA

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

Last Updated: Jan 13, 2025

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