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NM_000302.4(PLOD1):c.540G>A (p.Gln180=) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 20, 2015
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:
RCV002314035.9

Allele description [Variation Report for NM_000302.4(PLOD1):c.540G>A (p.Gln180=)]

NM_000302.4(PLOD1):c.540G>A (p.Gln180=)

Gene:
PLOD1:procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_000302.4(PLOD1):c.540G>A (p.Gln180=)
HGVS:
  • NC_000001.11:g.11952696G>A
  • NG_008159.1:g.23008G>A
  • NM_000302.4:c.540G>AMANE SELECT
  • NM_001316320.2:c.681G>A
  • NP_000293.2:p.Gln180=
  • NP_001303249.1:p.Gln227=
  • NC_000001.10:g.12012753G>A
  • NM_000302.3:c.540G>A
Links:
dbSNP: rs35958757
NCBI 1000 Genomes Browser:
rs35958757
Molecular consequence:
  • NM_000302.4:c.540G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001316320.2:c.681G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:
Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:
MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000738352Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Apr 20, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV000738352.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 18, 2024