NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr) AND Marfan syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (2 submissions)
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:: RCV000663877.9

Allele description

NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr)

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.6554T>C (p.Ile2185Thr)

HGVS:

NC_000015.10:g.48434656A>G
NG_008805.2:g.216133T>C
NM_000138.5:c.6554T>CMANE SELECT
NP_000129.3:p.Ile2185Thr
NP_000129.3:p.Ile2185Thr
LRG_778t1:c.6554T>C
LRG_778:g.216133T>C
LRG_778p1:p.Ile2185Thr
NC_000015.9:g.48726853A>G
NM_000138.4:c.6554T>C

Protein change:

I2185T

Links:

dbSNP: rs910656654

NCBI 1000 Genomes Browser:

rs910656654

Molecular consequence:

NM_000138.5:c.6554T>C - 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

Recent activity

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POTE ankyrin domain family member E isoform X3 [Homo sapiens]
POTE ankyrin domain family member E isoform X3 [Homo sapiens]
gi|2462573440|ref|XP_054198118.1|

Protein
Chain A, Proteasome subunit alpha type-2
Chain A, Proteasome subunit alpha type-2
gi|378792443|pdb|3UNH|A

Protein
Chain E, Proteasome subunit alpha type-1
Chain E, Proteasome subunit alpha type-1
gi|378792447|pdb|3UNH|E

Protein
Chain V, Proteasome subunit beta type-10
Chain V, Proteasome subunit beta type-10
gi|378792464|pdb|3UNH|V

Protein
Homologene neighbors for GEO Profiles (Select 131617135) (0)
GEO Profiles

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000787241	Center for Medical Genetics Ghent, University of Ghent	no assertion criteria provided	Uncertain significance (Nov 7, 2017)	germline	clinical testing
SCV002025399	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

SCV000787241

Center for Medical Genetics Ghent, University of Ghent

no assertion criteria provided

Uncertain significance
(Nov 7, 2017)

germline

clinical testing

SCV002025399

Centre of Medical Genetics, University of Antwerp

criteria provided, single submitter

(Submitter's publication)

Likely pathogenic
(Mar 1, 2021)

unknown

research

Citation Link

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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
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Center for Medical Genetics Ghent, University of Ghent, SCV000787241.1

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

#	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

From Centre of Medical Genetics, University of Antwerp, SCV002025399.1

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

Description

PM2, PS1, 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 16, 2024

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