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NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu) AND Recessive dystrophic epidermolysis bullosa

Germline classification:
Likely pathogenic (1 submission)
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:
RCV003339611.2

Allele description [Variation Report for NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu)]

NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu)

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.6146G>A (p.Gly2049Glu)
HGVS:
  • NC_000003.12:g.48575373C>T
  • NG_007065.1:g.24880G>A
  • NM_000094.4:c.6146G>AMANE SELECT
  • NP_000085.1:p.Gly2049Glu
  • LRG_286:g.24880G>A
  • NC_000003.11:g.48612806C>T
  • NM_000094.3:c.6146G>A
  • p.Gly2049Glu
Protein change:
G2049E
Links:
dbSNP: rs1410793870
NCBI 1000 Genomes Browser:
rs1410793870
Molecular consequence:
  • NM_000094.4:c.6146G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Recessive dystrophic epidermolysis bullosa (RDEB)
Synonyms:
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE; EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009179; MedGen: C0079474; Orphanet: 79408; Orphanet: 79409; OMIM: 226600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004048286Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Neuberg Centre For Genomic Medicine, NCGM, SCV004048286.1

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

Description

The missense variant p.G2049E in COL7A1 (NM_000094.4) has been previously reported in an individual affected with Recessive Dystrophic Epidermolysis Bullosa (Hovnanian et al, 1997). The p.G2049E variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. There is a moderate physicochemical difference between glycine and glutamic acid. The p.G2049E missense variant is predicted to be damaging by both SIFT and PolyPhen2. The glycine residue at codon 2049 of COL7A1 is conserved in all mammalian species. The nucleotide c.6146 in COL7A1 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. The variant is predicted to be damaging by both SIFT and PolyPhen2. For these reasons, this variant has been classified as Likely Pathogenic.

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

Last Updated: Sep 29, 2024