NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 17, 2016
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:: RCV000590567.1

Allele description [Variation Report for NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser)]

NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser)

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.4022A>G (p.Asn1341Ser)

HGVS:

NC_000015.10:g.48474593T>C
NG_008805.2:g.176196A>G
NM_000138.5:c.4022A>GMANE SELECT
NP_000129.3:p.Asn1341Ser
NP_000129.3:p.Asn1341Ser
LRG_778t1:c.4022A>G
LRG_778:g.176196A>G
LRG_778p1:p.Asn1341Ser
NC_000015.9:g.48766790T>C
NM_000138.4:c.4022A>G

Protein change:

N1341S

Links:

dbSNP: rs140638

NCBI 1000 Genomes Browser:

rs140638

Molecular consequence:

NM_000138.5:c.4022A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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RecName: Full=Phenazine biosynthesis-like domain-containing protein; AltName: Fu...
RecName: Full=Phenazine biosynthesis-like domain-containing protein; AltName: Full=MAWD-binding protein; Short=MAWDBP; AltName: Full=Unknown protein 32 from 2D-page of liver tissue
gi|17380331|sp|P30039.2|PBLD_HUMAN

Protein
GFAP glial fibrillary acidic protein [Homo sapiens]
GFAP glial fibrillary acidic protein [Homo sapiens]
Gene ID:2670

Gene
Salmonella enterica subsp. enterica serovar Newport strain R9_3242_R1 NODE_39_le...
Salmonella enterica subsp. enterica serovar Newport strain R9_3242_R1 NODE_39_length_12095_cov_0.675642_ID_89, whole genome shotgun sequence
gi|1132772682|gb|MOCV01000003.1||gn :MOCV01|NODE_39_length_12095_cov_0.675642_ID_89

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000695531	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Nov 17, 2016)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 24941995, 27611364, 11108952, 11875032, 10464652, 10942427 LabCorp Variant Classification Summary - May 2015.docx Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000695531

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Nov 17, 2016)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.

Yang RQ, Jabbari J, Cheng XS, Jabbari R, Nielsen JB, Risgaard B, Chen X, Sajadieh A, Haunsø S, Svendsen JH, Olesen MS, Tfelt-Hansen J.

BMC Genet. 2014 Jun 18;15:74. doi: 10.1186/1471-2156-15-74.

PubMed [citation]

PMID:: 24941995
PMCID:: PMC4070351

Genetic testing of 248 Chinese aortopathy patients using a panel assay.

Yang H, Luo M, Fu Y, Cao Y, Yin K, Li W, Meng C, Ma Y, Zhang J, Fan Y, Shu C, Chang Q, Zhou Z.

Sci Rep. 2016 Sep 9;6:33002. doi: 10.1038/srep33002.

PubMed [citation]

PMID:: 27611364
PMCID:: PMC5017237

See all PubMed Citations (6)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000695531.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

Variant summary: The FBN1 c.4022A>G (p.Asn1341Ser) variant involves the alteration of a conserved nucleotide. This variant is located within the calcium-binding EGF-like domain and alters one of the three residues that compose the Ca2+ binding site (Handford_2000, McGettrick_2000). Calcium-binding cites are crucial for numerous protein-protein interactions, however, this particular alteration has yet to be functionally assessed. 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant has been reported in at least two patients with classical MFS and is absent from 121328 control chromosomes. Taken together, this variant is classified as VUS-Possibly Pathogenic.

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

Last Updated: Mar 5, 2024

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