NM_001999.4(FBN2):c.3514G>T (p.Gly1172Cys) AND Congenital contractural arachnodactyly

Clinical significance:Likely pathogenic (Last evaluated: Aug 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000576844.1

Allele description [Variation Report for NM_001999.4(FBN2):c.3514G>T (p.Gly1172Cys)]

NM_001999.4(FBN2):c.3514G>T (p.Gly1172Cys)

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.3514G>T (p.Gly1172Cys)
HGVS:
  • NC_000005.10:g.128338081C>A
  • NG_008750.1:g.204963G>T
  • NM_001999.4:c.3514G>TMANE SELECT
  • NP_001990.2:p.Gly1172Cys
  • NC_000005.9:g.127673773C>A
  • NM_001999.3:c.3514G>T
Protein change:
G1172C
Links:
dbSNP: rs138303817
NCBI 1000 Genomes Browser:
rs138303817
Molecular consequence:
  • NM_001999.4:c.3514G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital contractural arachnodactyly (CCA)
Synonyms:
Beals syndrome; Arachnodactyly, contractural Beals type; Contractures, multiple with arachnodactyly; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007363; MedGen: C0220668; Orphanet: 115; OMIM: 121050

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000678220Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicagocriteria provided, single submitter
Likely pathogenic
(Aug 1, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

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 Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV000678220.1

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

Description

FBN2 NM_001999.3 exon27 p.Gly1172Cys (c.3514G>T): This variant has not been reported in the literature, but has been identified de novo by our laboratory in 1 individual with clinical features of Marfan related disorders. This variant is not present in large control databases. Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant classified as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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