NM_000094.4(COL7A1):c.6654C>G (p.Gly2218=) AND Dystrophic epidermolysis bullosa

Clinical significance:Benign (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001150325.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.6654C>G (p.Gly2218=)]

NM_000094.4(COL7A1):c.6654C>G (p.Gly2218=)

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.6654C>G (p.Gly2218=)
HGVS:
  • NC_000003.12:g.48573234G>C
  • NG_007065.1:g.27019C>G
  • NM_000094.3:c.6654C>G
  • NM_000094.4:c.6654C>GMANE SELECT
  • NP_000085.1:p.Gly2218=
  • NP_000085.1:p.Gly2218=
  • LRG_286t1:c.6654C>G
  • LRG_286:g.27019C>G
  • LRG_286p1:p.Gly2218=
  • NC_000003.11:g.48610667G>C
  • NC_000003.11:g.48610667G>C
Links:
dbSNP: rs151111203
NCBI 1000 Genomes Browser:
rs151111203
Molecular consequence:
  • NM_000094.3:c.6654C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_000094.4:c.6654C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Dystrophic epidermolysis bullosa
Synonyms:
Epidermolysis Bullosa Dystrophica; Severe generalized recessive dystrophic epidermolysis bullosa; RDEB-sev gen; See all synonyms [MedGen]
Identifiers:
MedGen: C0079294

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001311385Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Apr 27, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.

Varki R, Sadowski S, Uitto J, Pfendner E.

J Med Genet. 2007 Mar;44(3):181-92. Epub 2006 Sep 13.

PubMed [citation]
PMID:
16971478
PMCID:
PMC2598021

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001311385.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Oct 25, 2021

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