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NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 23, 2019
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:
RCV002416038.4

Allele description [Variation Report for NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu)]

NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu)

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.1967C>T (p.Pro656Leu)
HGVS:
  • NC_000009.12:g.134761956C>T
  • NG_008030.1:g.125151C>T
  • NM_000093.5:c.1967C>TMANE SELECT
  • NM_001278074.1:c.1967C>T
  • NP_000084.3:p.Pro656Leu
  • NP_001265003.1:p.Pro656Leu
  • LRG_737t1:c.1967C>T
  • LRG_737t2:c.1967C>T
  • LRG_737:g.125151C>T
  • LRG_737p2:p.Pro656Leu
  • NC_000009.11:g.137653802C>T
  • NM_000093.3:c.1967C>T
  • NM_000093.4:c.1967C>T
Protein change:
P656L
Links:
dbSNP: rs748345448
NCBI 1000 Genomes Browser:
rs748345448
Molecular consequence:
  • NM_000093.5:c.1967C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278074.1:c.1967C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002722259Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 23, 2019) 		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, SCV002722259.2

#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 8, 2024