NM_000094.3(COL7A1):c.2969G>A (p.Arg990Gln) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Mar 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000490263.1

Allele description [Variation Report for NM_000094.3(COL7A1):c.2969G>A (p.Arg990Gln)]

NM_000094.3(COL7A1):c.2969G>A (p.Arg990Gln)

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.2969G>A (p.Arg990Gln)
HGVS:
  • NC_000003.12:g.48587443C>T
  • NG_007065.1:g.12810G>A
  • NM_000094.3:c.2969G>A
  • NP_000085.1:p.Arg990Gln
  • LRG_286t1:c.2969G>A
  • LRG_286:g.12810G>A
  • LRG_286p1:p.Arg990Gln
  • NC_000003.11:g.48624876C>T
Protein change:
R990Q
Links:
dbSNP: rs568498471
NCBI 1000 Genomes Browser:
rs568498471
Molecular consequence:
  • NM_000094.3:c.2969G>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
Name:
Generalized dominant dystrophic epidermolysis bullosa (DDEB)
Synonyms:
DDEB, generalized; DDEB-gen; DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007549; MedGen: C0432322; Orphanet: 231568; OMIM: 131750

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000267269Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Centercriteria provided, single submitter
Uncertain significance
(Mar 18, 2016)
germlinereference population

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East Asiangermlineunknown1not providednot providednot providednot providedreference population

Citations

PubMed

Novel COL7A1 mutations in a Japanese family with transient bullous dermolysis of the newborn associated with pseudosyndactyly.

Nakano H, Toyomaki Y, Ohashi S, Nakano A, Jin H, Munakata T, Akita N, Tamai K, Mitsuhashi Y.

Br J Dermatol. 2007 Jul;157(1):179-82. Epub 2007 May 14. No abstract available.

PubMed [citation]
PMID:
17501948

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 Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center, SCV000267269.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian1not providednot providedreference population PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 7, 2021

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