NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 25, 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:: RCV002272352.2

Allele description [Variation Report for NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)]

NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)

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.6890C>T (p.Thr2297Met)

HGVS:

NC_000015.10:g.48428453G>A
NG_008805.2:g.222336C>T
NM_000138.5:c.6890C>TMANE SELECT
NP_000129.3:p.Thr2297Met
NP_000129.3:p.Thr2297Met
LRG_778t1:c.6890C>T
LRG_778:g.222336C>T
LRG_778p1:p.Thr2297Met
NC_000015.9:g.48720650G>A
NM_000138.4:c.6890C>T

Protein change:

T2297M

Links:

dbSNP: rs773785908

NCBI 1000 Genomes Browser:

rs773785908

Molecular consequence:

NM_000138.5:c.6890C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Mus musculus aurora kinase A interacting protein 1 (Aurkaip1), mRNA
Mus musculus aurora kinase A interacting protein 1 (Aurkaip1), mRNA
gi|146134896|ref|NM_025338.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002558297	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jul 25, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002558297

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jul 25, 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, SCV002558297.2

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

Description

Identified in patients with Marfan syndrome (Somers et al., 2016) and thoracic aortic aneurysm (TAA) (Landis et al., 2017) in published literature; Although located in a calcium-binding EGF-like domain of the FBN1 gene, it does not affect a cysteine residue within this domain; 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); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28550590, 27112580)

#	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: May 7, 2024

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