NM_000094.4(COL7A1):c.5132_5133insTCACC (p.Gly1712fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001224120.2

Allele description [Variation Report for NM_000094.4(COL7A1):c.5132_5133insTCACC (p.Gly1712fs)]

NM_000094.4(COL7A1):c.5132_5133insTCACC (p.Gly1712fs)

Gene:
COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000094.4(COL7A1):c.5132_5133insTCACC (p.Gly1712fs)
HGVS:
  • NC_000003.12:g.48579807_48579808insGTGAG
  • NG_007065.1:g.20446_20447insTCACC
  • NM_000094.4:c.5132_5133insTCACCMANE SELECT
  • NP_000085.1:p.Gly1712fs
  • LRG_286t1:c.5132_5133insTCACC
  • LRG_286:g.20446_20447insTCACC
  • NC_000003.11:g.48617239_48617240insGGTGA
  • NC_000003.11:g.48617240_48617241insGTGAG
  • NM_000094.3:c.5132_5133insTCACC
  • p.Gly1712Hisfs*131
Protein change:
G1712fs
Links:
Molecular consequence:
  • NM_000094.4:c.5132_5133insTCACC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001396300Invitaecriteria provided, single submitter
Pathogenic
(Aug 3, 2020)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants.

Mariath LM, Santin JT, Frantz JA, Doriqui MJR, Kiszewski AE, Schuler-Faccini L.

Clin Genet. 2019 Sep;96(3):189-198. doi: 10.1111/cge.13555. Epub 2019 May 29. Review.

PubMed [citation]
PMID:
31001817

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
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001396300.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Gly1712Hisfs*131) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individual(s) with recessive dystrophic epidermolysis bullosa (PMID: 31001817). Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: May 10, 2021

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