NM_000094.3(COL7A1):c.6007G>A (p.Gly2003Arg) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 30, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000414493.3

Allele description [Variation Report for NM_000094.3(COL7A1):c.6007G>A (p.Gly2003Arg)]

NM_000094.3(COL7A1):c.6007G>A (p.Gly2003Arg)

Gene:
COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000094.3(COL7A1):c.6007G>A (p.Gly2003Arg)
HGVS:
  • NC_000003.12:g.48575512C>T
  • NG_007065.1:g.24741G>A
  • NM_000094.3:c.6007G>A
  • NP_000085.1:p.Gly2003Arg
  • LRG_286t1:c.6007G>A
  • LRG_286:g.24741G>A
  • LRG_286p1:p.Gly2003Arg
  • NC_000003.11:g.48612945C>T
  • Q02388:p.Gly2003Arg
Protein change:
G2003R; GLY2003ARG
Links:
UniProtKB: Q02388#VAR_001815; OMIM: 120120.0008; dbSNP: rs121912832
NCBI 1000 Genomes Browser:
rs121912832
Molecular consequence:
  • NM_000094.3:c.6007G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000490496GeneDxcriteria provided, single submitter
Pathogenic
(Jul 30, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000490496.3

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

Description

Located in the highly conserved Gly-X-Y repeat of the collagenous domain; Glycine substitution variants in this region of the COLVII protein destabilize the collagen triple helix resulting in skin fragility due to poor anchoring of the basement membrane to the underlying dermis (Pfendner and Lucky, 2018); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 29722429, 21448560, 26707537, 8752681, 29963685, 20598510, 19681861, 8618021, 30523708)

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

Last Updated: Oct 6, 2021

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