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NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg) AND COL7A1-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 15, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV003952360.2

Allele description [Variation Report for NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg)]

NM_000094.4(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_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg)
HGVS:
  • NC_000003.12:g.48575512C>T
  • NG_007065.1:g.24741G>A
  • NM_000094.4:c.6007G>AMANE SELECT
  • NP_000085.1:p.Gly2003Arg
  • 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
  • NM_000094.3:c.6007G>A
  • 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_000094.4:c.6007G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
COL7A1-related disorder
Synonyms:
COL7A1-related condition; COL7A1- related disorders
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004775848PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Dec 15, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004775848.2

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

Description

The COL7A1 c.6007G>A variant is predicted to result in the amino acid substitution p.Gly2003Arg. This variant has been reported in several individuals with autosomal dominant or autosomal recessive epidermolysis bullosa dystrophica (see for example, Christiano et al. 1996. PubMed ID: 8752681; Yenamandra et al. 2018. PubMed ID: 29963685; Sawka and Funk. 2021. PubMed ID: 34338359). This variant has not been reported in a large population database, indicating this variant is rare. The amino acid p.Gly2003Arg resides in exon 73 and is within the triple helical domain of the COL7A1 protein (amino acids 1254-2783); and, glycine substitution variants in the triple helical domain (Gly-X-Y; especially in exons 73, 74, and 75) are predominant in autosomal dominant dystrophic epidermolysis bullosa (DDEB; Pfendner and Lucky. 2018. PubMed ID: 20301481). This variant is interpreted as pathogenic.

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

Last Updated: Oct 8, 2024