NM_001999.4(FBN2):c.2392G>A (p.Gly798Ser) AND Aortic aneurysm, familial thoracic 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 15, 2016
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:: RCV000582373.1

Allele description [Variation Report for NM_001999.4(FBN2):c.2392G>A (p.Gly798Ser)]

NM_001999.4(FBN2):c.2392G>A (p.Gly798Ser)

Gene:

FBN2:fibrillin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q23.3

Genomic location:

Preferred name:

NM_001999.4(FBN2):c.2392G>A (p.Gly798Ser)

HGVS:

NC_000005.10:g.128364636C>T
NG_008750.1:g.178407G>A
NM_001999.4:c.2392G>AMANE SELECT
NP_001990.2:p.Gly798Ser
NC_000005.9:g.127700329C>T
NM_001999.3:c.2392G>A

Protein change:

G798S

Links:

dbSNP: rs1554063781

Molecular consequence:

NM_001999.4:c.2392G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Aortic aneurysm, familial thoracic 2 (AAT2)
Identifiers:: MONDO: MONDO:0011770; MedGen: C1846837; OMIM: 607087

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000692233	Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	no assertion criteria provided	Uncertain significance (Jul 15, 2016)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000692233

Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

no assertion criteria provided

Uncertain significance
(Jul 15, 2016)

germline

clinical testing

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 Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000692233.1

#	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

Last Updated: Apr 23, 2022

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