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NM_000094.4(COL7A1):c.6187C>G (p.Arg2063Gly) AND Transient bullous dermolysis of the newborn

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 4, 2022
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:
RCV002249009.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.6187C>G (p.Arg2063Gly)]

NM_000094.4(COL7A1):c.6187C>G (p.Arg2063Gly)

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.6187C>G (p.Arg2063Gly)
HGVS:
  • NC_000003.12:g.48575236G>C
  • NG_007065.1:g.25017C>G
  • NM_000094.4:c.6187C>GMANE SELECT
  • NP_000085.1:p.Arg2063Gly
  • LRG_286:g.25017C>G
  • NC_000003.11:g.48612669G>C
Protein change:
R2063G
Links:
dbSNP: rs121912849
NCBI 1000 Genomes Browser:
rs121912849
Molecular consequence:
  • NM_000094.4:c.6187C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Transient bullous dermolysis of the newborn (TBDN)
Synonyms:
Epidermolysis bullosa dystrophica, dominant neonatal form; DYSTROPHIC EPIDERMOLYSIS BULLOSA, NEONATAL; EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM
Identifiers:
MONDO: MONDO:0007548; MedGen: C1851573; Orphanet: 79411; OMIM: 131705

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002516284Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Likely pathogenic
(May 4, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV002516284.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023