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NM_000094.4(COL7A1):c.6269del (p.Pro2090fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 23, 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:
RCV003558838.2

Allele description [Variation Report for NM_000094.4(COL7A1):c.6269del (p.Pro2090fs)]

NM_000094.4(COL7A1):c.6269del (p.Pro2090fs)

Gene:
COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000094.4(COL7A1):c.6269del (p.Pro2090fs)
HGVS:
  • NC_000003.12:g.48575078del
  • NG_007065.1:g.25179del
  • NM_000094.4:c.6269delMANE SELECT
  • NP_000085.1:p.Pro2090fs
  • LRG_286:g.25179del
  • NC_000003.11:g.48612507del
  • NC_000003.11:g.48612511del
  • NM_000094.4:c.6269delCMANE SELECT
Protein change:
P2090fs
Links:
dbSNP: rs2044195570
NCBI 1000 Genomes Browser:
rs2044195570
Molecular consequence:
  • NM_000094.4:c.6269del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004292720Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 23, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

A novel deletion and two recurrent substitutions on type VII collagen gene in seven Iranian patients with epidermolysis bullosa.

Hamidi AK, Moghaddam M, Hatamnejadian N, Ebrahimi A.

Iran J Basic Med Sci. 2016 Aug;19(8):858-862.

PubMed [citation]
PMID:
27746867
PMCID:
PMC5048121

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV004292720.1

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

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1180763). This variant is also known as c.6265delC, p.Pro2089fs. This premature translational stop signal has been observed in individual(s) with autosomal recessive epidermolysis bullosa (PMID: 27746867). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro2090Leufs*116) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478).

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

Last Updated: Sep 29, 2024