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NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly) AND Ehlers-Danlos syndrome, classic type

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000233786.15

Allele description [Variation Report for NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly)]

NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly)

Genes:
COL5A1:collagen type V alpha 1 chain [Gene - OMIM - HGNC]
LOC101448202:uncharacterized LOC101448202 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly)
HGVS:
  • NC_000009.12:g.134824844A>G
  • NG_008030.1:g.188039A>G
  • NM_000093.5:c.4943A>GMANE SELECT
  • NM_001278074.1:c.4943A>G
  • NP_000084.3:p.Asp1648Gly
  • NP_000084.3:p.Asp1648Gly
  • NP_001265003.1:p.Asp1648Gly
  • LRG_737t1:c.4943A>G
  • LRG_737t2:c.4943A>G
  • LRG_737:g.188039A>G
  • LRG_737p1:p.Asp1648Gly
  • LRG_737p2:p.Asp1648Gly
  • NC_000009.11:g.137716690A>G
  • NM_000093.3:c.4943A>G
  • NM_000093.4:c.4943A>G
Protein change:
D1648G
Links:
dbSNP: rs746071518
NCBI 1000 Genomes Browser:
rs746071518
Molecular consequence:
  • NM_000093.5:c.4943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278074.1:c.4943A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ehlers-Danlos syndrome, classic type (cEDS)
Identifiers:
MONDO: MONDO:0007522; MedGen: C4225429; Orphanet: 287

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002075134GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV002075134.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 11-12-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: May 12, 2024