NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn) AND Marfan syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 1, 2021
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:: RCV002245985.1

Allele description [Variation Report for NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn)]

NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn)

Genes:

LOC126862124:CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 [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.4336G>A (p.Asp1446Asn)

Other names:

p.D1446N:GAT>AAT

HGVS:

NC_000015.10:g.48472551C>T
NG_008805.2:g.178238G>A
NM_000138.5:c.4336G>AMANE SELECT
NP_000129.3:p.Asp1446Asn
NP_000129.3:p.Asp1446Asn
LRG_778t1:c.4336G>A
LRG_778:g.178238G>A
LRG_778p1:p.Asp1446Asn
NC_000015.9:g.48764748C>T
NM_000138.4:c.4336G>A

Protein change:

D1446N

Links:

dbSNP: rs794728221

NCBI 1000 Genomes Browser:

rs794728221

Molecular consequence:

NM_000138.5:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Marfan syndrome (MFS)
Synonyms:: MARFAN SYNDROME, TYPE I; Marfan syndrome type 1; Marfan's syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007947; MedGen: C0024796; Orphanet: 284963; Orphanet: 558; OMIM: 154700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002025314	Centre of Medical Genetics, University of Antwerp	criteria provided, single submitter (Submitter's publication)	Likely pathogenic (Mar 1, 2021)	unknown	research	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002025314

Centre of Medical Genetics, University of Antwerp

criteria provided, single submitter

(Submitter's publication)

Likely pathogenic
(Mar 1, 2021)

unknown

research

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Centre of Medical Genetics, University of Antwerp, SCV002025314.1

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

Description

PM2, PS6, PP4

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

Last Updated: Sep 29, 2024

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