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NM_002317.7(LOX):c.235G>A (p.Ala79Thr) AND multiple conditions

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 12, 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:
RCV000755147.1

Allele description [Variation Report for NM_002317.7(LOX):c.235G>A (p.Ala79Thr)]

NM_002317.7(LOX):c.235G>A (p.Ala79Thr)

Genes:
LOX:lysyl oxidase [Gene - OMIM - HGNC]
SRFBP1:serum response factor binding protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q23.1
Genomic location:
Preferred name:
NM_002317.7(LOX):c.235G>A (p.Ala79Thr)
HGVS:
  • NC_000005.10:g.122077751C>T
  • NG_008722.1:g.5610G>A
  • NM_002317.7:c.235G>AMANE SELECT
  • NP_002308.2:p.Ala79Thr
  • NC_000005.9:g.121413446C>T
  • NM_002317.5:c.235G>A
  • NM_002317.6:c.235G>A
Protein change:
A79T
Links:
dbSNP: rs752839330
NCBI 1000 Genomes Browser:
rs752839330
Molecular consequence:
  • NM_002317.7:c.235G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital aneurysm of ascending aorta (AAT1)
Synonyms:
AORTIC ANEURYSM, FAMILIAL THORACIC 1; Familial aortic dissection; Annuloaortic ectasia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0024559; MedGen: C0345050; Orphanet: 229; OMIM: 607086
Name:
Acute aortic dissection
Identifiers:
MedGen: C0241868

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000882969University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Benign
(Jan 12, 2016) 		unknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes2not providednot providednot providednot providedresearch

Citations

PMC

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

Guo DC, Regalado ES, Gong L, Duan X, Santos-Cortez RL, Arnaud P, Ren Z, Cai B, Hostetler EM, Moran R, Liang D, Estrera A, Safi HJ, University of Washington Center for Mendelian Genomics, Leal SM, Bamshad MJ, Shendure J, Nickerson DA, Jondeau G, Boileau C, Milewicz DM.

Circulation research. 2016 Jan 12; 118(6): 928-934

PMC [article]
PMCID:
PMC4839295
PMID:
26838787
DOI:
10.1161/CIRCRESAHA.115.307130

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV000882969.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Feb 20, 2024