NM_000094.4(COL7A1):c.7412G>A (p.Arg2471Gln) AND Epidermolysis bullosa dystrophica inversa, autosomal recessive

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 21, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001278922.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.7412G>A (p.Arg2471Gln)]

NM_000094.4(COL7A1):c.7412G>A (p.Arg2471Gln)

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.7412G>A (p.Arg2471Gln)

HGVS:

NC_000003.12:g.48570303C>T
NG_007065.1:g.29950G>A
NM_000094.4:c.7412G>AMANE SELECT
NP_000085.1:p.Arg2471Gln
LRG_286:g.29950G>A
NC_000003.11:g.48607736C>T

Protein change:

R2471Q

Links:

dbSNP: rs369221071

NCBI 1000 Genomes Browser:

rs369221071

Molecular consequence:

NM_000094.4:c.7412G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Epidermolysis bullosa dystrophica inversa, autosomal recessive
Identifiers:: MedGen: C2673612

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001465968	Natera, Inc.	no assertion criteria provided	Uncertain significance (Aug 21, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001465968

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Aug 21, 2020)

germline

clinical testing

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

Details of each submission

From Natera, Inc., SCV001465968.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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

ClinVar

Relating variation to medicine