NM_002317.7(LOX):c.302C>T (p.Ala101Val) AND Aortic aneurysm, familial thoracic 10

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 21, 2021
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:: RCV001803502.7

Allele description [Variation Report for NM_002317.7(LOX):c.302C>T (p.Ala101Val)]

NM_002317.7(LOX):c.302C>T (p.Ala101Val)

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.302C>T (p.Ala101Val)

HGVS:

NC_000005.10:g.122077684G>A
NG_008722.1:g.5677C>T
NM_002317.7:c.302C>TMANE SELECT
NP_002308.2:p.Ala101Val
NC_000005.9:g.121413379G>A

Protein change:

A101V

Links:

dbSNP: rs765652942

NCBI 1000 Genomes Browser:

rs765652942

Molecular consequence:

NM_002317.7:c.302C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Aortic aneurysm, familial thoracic 10 (AAT10)
Identifiers:: MONDO: MONDO:0014950; MedGen: C4284414; OMIM: 617168

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002048182	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021)	Uncertain significance (Jul 21, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002048182

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)

Uncertain significance
(Jul 21, 2021)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002048182.1

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

Description

The LOX c.302C>T; p.Ala101Val variant (rs765652942), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found in the Latino population with an overall allele frequency of 0.02% (8/32402 alleles) in the Genome Aggregation Database. The alanine at codon 101 is weakly conserved, and computational analyses predict that this variant is neutral (REVEL: 0.053). However, due to limited information, the clinical significance of the p.Ala101Val variant is uncertain at this time.

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

Last Updated: Sep 29, 2024

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