NM_000094.4(COL7A1):c.5561_5565del (p.Gly1854fs) AND Epidermolysis bullosa dystrophica

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 3, 2016
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:: RCV001352935.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.5561_5565del (p.Gly1854fs)]

NM_000094.4(COL7A1):c.5561_5565del (p.Gly1854fs)

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.5561_5565del (p.Gly1854fs)

HGVS:

NC_000003.12:g.48576996_48577000del
NG_007065.1:g.23254_23258del
NM_000094.4:c.5561_5565delMANE SELECT
NP_000085.1:p.Gly1854fs
LRG_286:g.23254_23258del
NC_000003.11:g.48614429_48614433del
NM_000094.4:c.5561_5565delGGAGGMANE SELECT
p.Gly1854Glufs*16

Protein change:

G1854fs

Links:

dbSNP: rs2044357264

NCBI 1000 Genomes Browser:

rs2044357264

Molecular consequence:

NM_000094.4:c.5561_5565del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

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Hydroxocobalamin
Hydroxocobalamin
Injectable form of VITAMIN B 12 that has been used therapeutically to treat VITAMIN B 12 DEFICIENCY.<br/>

MeSH
D006879 (1)
MeSH
MAN1B1 [Leptosomus discolor]
MAN1B1 [Leptosomus discolor]
Gene ID:104340447

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001547558	Biomedical Innovation Departament, CIEMAT	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 3, 2016)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001547558

Biomedical Innovation Departament, CIEMAT

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 3, 2016)

germline

research

PubMed (1)
[See all records that cite this PMID]

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

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, SCV001547558.1

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

#	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: Jun 5, 2022

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