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NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 11, 2022
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:
RCV003224216.8

Allele description [Variation Report for NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val)]

NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val)

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.1595C>T (p.Ala532Val)
Other names:
p.A532V:GCG>GTG
HGVS:
  • NC_000009.12:g.134750815C>T
  • NG_008030.1:g.114010C>T
  • NM_000093.5:c.1595C>TMANE SELECT
  • NM_001278074.1:c.1595C>T
  • NP_000084.3:p.Ala532Val
  • NP_000084.3:p.Ala532Val
  • NP_001265003.1:p.Ala532Val
  • LRG_737t1:c.1595C>T
  • LRG_737t2:c.1595C>T
  • LRG_737:g.114010C>T
  • LRG_737p1:p.Ala532Val
  • LRG_737p2:p.Ala532Val
  • NC_000009.11:g.137642661C>T
  • NM_000093.3:c.1595C>T
  • NM_000093.4:c.1595C>T
Protein change:
A532V
Links:
dbSNP: rs369000939
NCBI 1000 Genomes Browser:
rs369000939
Molecular consequence:
  • NM_000093.5:c.1595C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278074.1:c.1595C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ehlers-Danlos syndrome, classic type, 1 (EDSCL1)
Synonyms:
EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0019567; MedGen: C0268335; OMIM: 130000
Name:
Fibromuscular dysplasia, multifocal
Identifiers:
MONDO: MONDO:0859151; MedGen: C5543412; OMIM: 619329

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003919839Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 11, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV003919839.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF: 0.006% [7/112878]; https://gnomad.broadinstitute.org/variant/9-137642661-C-T?dataset=gnomad_r2_1), and in ClinVar (Variation ID: 212936). Evolutionary conservation and computational prediction tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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

Last Updated: Nov 3, 2024