U.S. flag

An official website of the United States government

NM_000094.4(COL7A1):c.6235G>A (p.Gly2079Arg) AND COL7A1-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 22, 2024
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:
RCV003900816.2

Allele description [Variation Report for NM_000094.4(COL7A1):c.6235G>A (p.Gly2079Arg)]

NM_000094.4(COL7A1):c.6235G>A (p.Gly2079Arg)

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.6235G>A (p.Gly2079Arg)
HGVS:
  • NC_000003.12:g.48575108C>T
  • NG_007065.1:g.25145G>A
  • NM_000094.4:c.6235G>AMANE SELECT
  • NP_000085.1:p.Gly2079Arg
  • LRG_286t1:c.6235G>A
  • LRG_286:g.25145G>A
  • NC_000003.11:g.48612541C>T
  • NM_000094.3:c.6235G>A
Protein change:
G2079R
Links:
dbSNP: rs2107671960
NCBI 1000 Genomes Browser:
rs2107671960
Molecular consequence:
  • NM_000094.4:c.6235G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004710635PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Apr 22, 2024) 		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, SCV004710635.2

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

Description

The COL7A1 c.6235G>A variant is predicted to result in the amino acid substitution p.Gly2079Arg. This variant has been reported in individuals with autosomal dominant dystrophic epidermolysis bullosa (Christiano et al. 1999. PubMed ID: 10232408; Almaani et al. 2011. PubMed ID: 21448560; Table S1, Natale et al. 2022. PubMed ID: 35979658). This variant has not been documented in a large population database, indicating it is rare. The amino acid residue p.Gly2079 is located in exon 75 and within the triple helical domain of the COL7A1 protein (amino acids 1254-2784).  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). Given the evidence, we interpret this variant as pathogenic.

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

Last Updated: Oct 13, 2024