NM_000094.4(COL7A1):c.4147G>A (p.Gly1383Arg) AND Epidermolysis bullosa dystrophica

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 17, 2009
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:: RCV001352842.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.4147G>A (p.Gly1383Arg)]

NM_000094.4(COL7A1):c.4147G>A (p.Gly1383Arg)

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.4147G>A (p.Gly1383Arg)

HGVS:

NC_000003.12:g.48584348C>T
NG_007065.1:g.15905G>A
NM_000094.4:c.4147G>AMANE SELECT
NP_000085.1:p.Gly1383Arg
LRG_286:g.15905G>A
NC_000003.11:g.48621781C>T
p.Gly1383Arg

Protein change:

G1383R

Links:

dbSNP: rs2045046700

NCBI 1000 Genomes Browser:

rs2045046700

Molecular consequence:

NM_000094.4:c.4147G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Epidermolysis bullosa dystrophica
Synonyms:: Dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly); Dystrophic epidermolysis bullosa
Identifiers:: MONDO: MONDO:0006543; MedGen: C0079294

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001547308	Biomedical Innovation Departament, CIEMAT	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 17, 2009)	germline	research	PubMed (2) [See all records that cite these PMIDs] 20184583, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001547308

Biomedical Innovation Departament, CIEMAT

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 17, 2009)

germline

research

PubMed (2)
[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	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.

Escámez MJ, García M, Cuadrado-Corrales N, Llames SG, Charlesworth A, De Luca N, Illera N, Sánchez-Jimeno C, Holguín A, Duarte B, Trujillo-Tiebas MJ, Vicario JL, Santiago JL, Hernández-Martín A, Torrelo A, Castiglia D, Ayuso C, Larcher F, Jorcano JL, Meana A, Meneguzzi G, Zambruno G, et al.

Br J Dermatol. 2010 Jul;163(1):155-61. doi: 10.1111/j.1365-2133.2010.09713.x. Epub 2010 Feb 22.

PubMed [citation]

PMID:: 20184583

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Biomedical Innovation Departament, CIEMAT, SCV001547308.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (2)

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

Last Updated: Feb 20, 2024

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