NM_000094.4(COL7A1):c.4128del (p.Gly1377fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 13, 2023
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:: RCV000821251.3

Allele description [Variation Report for NM_000094.4(COL7A1):c.4128del (p.Gly1377fs)]

NM_000094.4(COL7A1):c.4128del (p.Gly1377fs)

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.4128del (p.Gly1377fs)

HGVS:

NC_000003.12:g.48584367del
NG_007065.1:g.15886del
NM_000094.4:c.4128delMANE SELECT
NP_000085.1:p.Gly1377fs
LRG_286:g.15886del
NC_000003.11:g.48621800del
NM_000094.3:c.4128delT
NM_000094.4:c.4128delTMANE SELECT
p.Gly1377Aspfs*22

Protein change:

G1377fs

Links:

dbSNP: rs1575466699

NCBI 1000 Genomes Browser:

rs1575466699

Molecular consequence:

NM_000094.4:c.4128del - 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
SCV000962004	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 13, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25913354, 16971478, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000962004

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 13, 2023)

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

Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa.

Tenedini E, Artuso L, Bernardis I, Artusi V, Percesepe A, De Rosa L, Contin R, Manfredini R, Pellacani G, Giannetti A, Pagani J, De Luca M, Tagliafico E.

Br J Dermatol. 2015 Sep;173(3):731-8. doi: 10.1111/bjd.13858. Epub 2015 Jul 29.

PubMed [citation]

PMID:: 25913354

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, SCV000962004.3

#	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. ClinVar contains an entry for this variant (Variation ID: 663385). This premature translational stop signal has been observed in individual(s) with epidermolysis bullosa dystrophica (PMID: 25913354). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly1377Aspfs*22) 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).

#	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: Feb 20, 2024

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