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NM_000093.5(COL5A1):c.1230G>A (p.Arg410=) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 8, 2023
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:
RCV003307719.9

Allele description [Variation Report for NM_000093.5(COL5A1):c.1230G>A (p.Arg410=)]

NM_000093.5(COL5A1):c.1230G>A (p.Arg410=)

Gene:
COL5A1:collagen type V alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_000093.5(COL5A1):c.1230G>A (p.Arg410=)
HGVS:
  • NC_000009.12:g.134731561G>A
  • NG_008030.1:g.94756G>A
  • NM_000093.3:c.1230G>A
  • NM_000093.5:c.1230G>AMANE SELECT
  • NM_001278074.1:c.1230G>A
  • NP_000084.3:p.Arg410=
  • NP_001265003.1:p.Arg410=
  • LRG_737t1:c.1230G>A
  • LRG_737t2:c.1230G>A
  • LRG_737:g.94756G>A
  • LRG_737p2:p.Arg410=
  • NC_000009.11:g.137623407G>A
  • NC_000009.11:g.137623407G>A
  • NM_000093.4:c.1230G>A
Links:
dbSNP: rs1272170006
NCBI 1000 Genomes Browser:
rs1272170006
Molecular consequence:
  • NM_000093.5:c.1230G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001278074.1:c.1230G>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
SCV003997577Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Apr 8, 2023) 		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, SCV003997577.2

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

Description

This alteration is classified as likely 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: Oct 26, 2024