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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:
2

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002764779Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)
Likely pathogenic
(Sep 13, 2021)
germline, paternalclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedpaternalyes1not providednot providednot providednot providedclinical testing

Details of each submission

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2paternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024