NM_000094.4(COL7A1):c.1474_1505del (p.Glu492fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 4, 2017
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:: RCV001385301.4

Allele description [Variation Report for NM_000094.4(COL7A1):c.1474_1505del (p.Glu492fs)]

NM_000094.4(COL7A1):c.1474_1505del (p.Glu492fs)

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.1474_1505del (p.Glu492fs)

HGVS:

NC_000003.11:g.48629108_48629139del
NC_000003.12:g.48591679_48591710del
NG_007065.1:g.8547_8578del
NM_000094.4:c.1474_1505delMANE SELECT
NP_000085.1:p.Glu492fs
LRG_286:g.8547_8578del
NC_000003.11:g.48629108_48629139del
NC_000003.11:g.48629108_48629139delGTGGGAACCACGGTTGCAGGGGTGGCCACCTC
NC_000003.11:g.48629112_48629143del

Protein change:

E492fs

Links:

dbSNP: rs2107788141

NCBI 1000 Genomes Browser:

rs2107788141

Molecular consequence:

NM_000094.4:c.1474_1505del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001585109	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 4, 2017)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16971478, 19681861, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001585109

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 4, 2017)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.

Kern JS, Grüninger G, Imsak R, Müller ML, Schumann H, Kiritsi D, Emmert S, Borozdin W, Kohlhase J, Bruckner-Tuderman L, Has C.

Br J Dermatol. 2009 Nov;161(5):1089-97. doi: 10.1111/j.1365-2133.2009.09333.x. Epub 2009 Jun 5.

PubMed [citation]

PMID:: 19681861

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001585109.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478, 19681861). This variant has not been reported in the literature in individuals with COL7A1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu492Trpfs*46) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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