NM_000146.4(FTL):c.163T>C (p.Leu55=) AND sporadic abdominal aortic aneurysm

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 21, 2014
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:: RCV000144503.4

Allele description [Variation Report for NM_000146.4(FTL):c.163T>C (p.Leu55=)]

NM_000146.4(FTL):c.163T>C (p.Leu55=)

Genes:

GYS1:glycogen synthase 1 [Gene - OMIM - HGNC]
FTL:ferritin light chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

Preferred name:

NM_000146.4(FTL):c.163T>C (p.Leu55=)

HGVS:

NC_000019.10:g.48965830T>C
NG_008152.1:g.5522T>C
NM_000146.4:c.163T>CMANE SELECT
NP_000137.2:p.Leu55=
NC_000019.9:g.49469087T>C
NM_000146.3:c.163T>C

Links:

dbSNP: rs2230267

NCBI 1000 Genomes Browser:

rs2230267

Molecular consequence:

NM_000146.4:c.163T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: sporadic abdominal aortic aneurysm
Identifiers:: MedGen: CN220053

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000189822	TilsonLab, Columbia University	no assertion criteria provided	Likely pathogenic (Sep 21, 2014)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000189822

TilsonLab, Columbia University

no assertion criteria provided

Likely pathogenic
(Sep 21, 2014)

unknown

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
not provided	unknown	yes	15	not provided	not provided	19	not provided	research

Citations

PubMed

The candidate gene approach to susceptibility for abdominal aortic aneurysm: TIMP1, HLA-DR-15, ferritin light chain, and collagen XI-Alpha-1.

Tilson MD 3rd, Ro CY.

Ann N Y Acad Sci. 2006 Nov;1085:282-90. Review.

PubMed [citation]

PMID:: 17182944

Details of each submission

From TilsonLab, Columbia University, SCV000189822.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	15	not provided	not provided	research	PubMed (1)

Description

Observed frequency is 15/19 = 0.789 patients with abdominal aortic aneurysm versus heterozygosity is described in "Variation Viewer" as 0.496.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	19	not provided	not provided		15	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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