NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys) AND COL7A1-related disorder

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 29, 2023
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:: RCV003910365.2

Allele description [Variation Report for NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys)]

NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys)

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.5572G>A (p.Glu1858Lys)

HGVS:

NC_000003.12:g.48576916C>T
NG_007065.1:g.23337G>A
NM_000094.4:c.5572G>AMANE SELECT
NP_000085.1:p.Glu1858Lys
NP_000085.1:p.Glu1858Lys
LRG_286t1:c.5572G>A
LRG_286:g.23337G>A
LRG_286p1:p.Glu1858Lys
NC_000003.11:g.48614349C>T
NM_000094.3:c.5572G>A

Protein change:

E1858K

Links:

dbSNP: rs147633212

NCBI 1000 Genomes Browser:

rs147633212

Molecular consequence:

NM_000094.4:c.5572G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: COL7A1-related disorder
Synonyms:: COL7A1-related condition; COL7A1- related disorders
Identifiers:

Recent activity

Clear Turn Off Turn On

Mus musculus neuregulin 3 (Nrg3), transcript variant 1, mRNA
Mus musculus neuregulin 3 (Nrg3), transcript variant 1, mRNA
gi|298231175|ref|NM_008734.3|

Nucleotide
putative protein [Arabidopsis thaliana]
putative protein [Arabidopsis thaliana]
gi|7268762|emb|CAB78968.1|

Protein

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
SCV004724597	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely benign (Dec 29, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004724597

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely benign
(Dec 29, 2023)

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 PreventionGenetics, part of Exact Sciences, SCV004724597.2

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	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: Oct 20, 2024

ClinVar

Relating variation to medicine