NM_000138.5(FBN1):c.4085C>G (p.Thr1362Ser) AND Marfan syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 10, 2023
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003329133.1

Allele description [Variation Report for NM_000138.5(FBN1):c.4085C>G (p.Thr1362Ser)]

NM_000138.5(FBN1):c.4085C>G (p.Thr1362Ser)

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.4085C>G (p.Thr1362Ser)

HGVS:

NC_000015.10:g.48474530G>C
NG_008805.2:g.176259C>G
NM_000138.5:c.4085C>GMANE SELECT
NM_001406716.1:c.4085C>G
NP_000129.3:p.Thr1362Ser
NP_000129.3:p.Thr1362Ser
NP_001393645.1:p.Thr1362Ser
LRG_778t1:c.4085C>G
LRG_778:g.176259C>G
LRG_778p1:p.Thr1362Ser
NC_000015.9:g.48766727G>C
NM_000138.4:c.4085C>G

Protein change:

T1362S

Molecular consequence:

NM_000138.5:c.4085C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406716.1:c.4085C>G - 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
SCV003915956	deCODE genetics, Amgen	no assertion criteria provided	Likely pathogenic (Apr 10, 2023)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003915956

deCODE genetics, Amgen

no assertion criteria provided

Likely pathogenic
(Apr 10, 2023)

germline

research

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
Icelandic	germline	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.

Klemenzdottir EO, Arnadottir GA, Jensson BO, Jonasdottir A, Katrinardottir H, Fridriksdottir R, Jonasdottir A, Sigurdsson A, Gudjonsson SA, Jonsson JJ, Stefansdottir V, Danielsen R, Palsdottir A, Jonsson H, Helgason A, Magnusson OT, Thorsteinsdottir U, Bjornsson HT, Stefansson K, Sulem P.

Eur J Hum Genet. 2024 Jan;32(1):44-51. doi: 10.1038/s41431-023-01455-0. Epub 2023 Sep 8.

PubMed [citation]

PMID:: 37684520
PMCID:: PMC10772070

Details of each submission

From deCODE genetics, Amgen, SCV003915956.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Icelandic	1	not provided	not provided	research	PubMed (1)

Description

The p.(Thr1362Ser) variant occurred de novo in an individual showing signs of Marfan syndrome, maternity and paternity confirmed. Applied ACMG criteria: PS2, PM2, PP2, PP4

#	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: Sep 23, 2023

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Relating variation to medicine