NM_000138.5(FBN1):c.287G>C (p.Arg96Thr) AND Stiff skin syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 27, 2024
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:: RCV003991468.2

Allele description [Variation Report for NM_000138.5(FBN1):c.287G>C (p.Arg96Thr)]

NM_000138.5(FBN1):c.287G>C (p.Arg96Thr)

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.287G>C (p.Arg96Thr)

Other names:

p.R96T:AGG>ACG; p.Arg96Thr

HGVS:

NC_000015.10:g.48610787C>G
NG_008805.2:g.40002G>C
NM_000138.5:c.287G>CMANE SELECT
NP_000129.3:p.Arg96Thr
NP_000129.3:p.Arg96Thr
LRG_778t1:c.287G>C
LRG_778:g.40002G>C
LRG_778p1:p.Arg96Thr
NC_000015.9:g.48902984C>G
NM_000138.4:c.287G>C

Protein change:

R96T

Links:

dbSNP: rs794728291

NCBI 1000 Genomes Browser:

rs794728291

Molecular consequence:

NM_000138.5:c.287G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Stiff skin syndrome (SSKS)
Identifiers:: MONDO: MONDO:0008492; MedGen: C1861456; OMIM: 184900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004809160	Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 27, 2024)	germline	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

SCV004809160

Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 27, 2024)

germline

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
Latin	germline	yes	1	not provided	not provided	not provided	not provided	clinical 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 Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili, SCV004809160.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Latin	1	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	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 3, 2025

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