NM_002317.7(LOX):c.389C>A (p.Ser130Ter) AND Aortic aneurysm, familial thoracic 10

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 13, 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:: RCV002468741.4

Allele description [Variation Report for NM_002317.7(LOX):c.389C>A (p.Ser130Ter)]

NM_002317.7(LOX):c.389C>A (p.Ser130Ter)

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.389C>A (p.Ser130Ter)

HGVS:

NC_000005.10:g.122077597G>T
NG_008722.1:g.5764C>A
NG_105605.1:g.570G>T
NM_002317.7:c.389C>AMANE SELECT
NP_002308.2:p.Ser130Ter
NC_000005.9:g.121413292G>T

Protein change:

S130*

Molecular consequence:

NM_002317.7:c.389C>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

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
SCV002764779	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Likely pathogenic (Sep 13, 2021)	germline, paternal	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002764779

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Likely pathogenic
(Sep 13, 2021)

germline, paternal

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	1	not provided	not provided	not provided	not provided	clinical testing
not provided	paternal	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV002764779.1

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

Last Updated: Jun 23, 2024

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