NM_000138.5(FBN1):c.83A>G (p.Asn28Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 19, 2022
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:: RCV002281720.9

Allele description [Variation Report for NM_000138.5(FBN1):c.83A>G (p.Asn28Ser)]

NM_000138.5(FBN1):c.83A>G (p.Asn28Ser)

Genes:

LOC130057019:ATAC-STARR-seq lymphoblastoid silent region 6417 [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.83A>G (p.Asn28Ser)

Other names:

p.N28S:AAT>AGT

HGVS:

NC_000015.10:g.48644687T>C
NG_008805.2:g.6102A>G
NM_000138.5:c.83A>GMANE SELECT
NP_000129.3:p.Asn28Ser
NP_000129.3:p.Asn28Ser
LRG_778t1:c.83A>G
LRG_778:g.6102A>G
LRG_778p1:p.Asn28Ser
NC_000015.9:g.48936884T>C
NM_000138.4:c.83A>G

Protein change:

N28S

Links:

dbSNP: rs193922245

NCBI 1000 Genomes Browser:

rs193922245

Molecular consequence:

NM_000138.5:c.83A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000233793	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (May 19, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000233793

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(May 19, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000233793.14

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

Description

Has been previously reported in a 36 year-old female with sudden unexplained death who also harbored a second cardiogenetic variant in the PKP2 gene (Sanchez et al., 2016).; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Does not affect a cysteine residue within a calcium-binding EGF-like domain of the FBN1 gene; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN1-related disorders (Collod-Beroud et al., 2003).; This variant is associated with the following publications: (PMID: 27930701, 27906200)

#	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		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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