NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 4, 2019
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:: RCV001265687.3

Allele description [Variation Report for NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg)]

NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg)

Gene:

COL6A2:collagen type VI alpha 2 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg)

HGVS:

NC_000021.9:g.46126012G>A
NG_008675.1:g.32894G>A
NM_001849.4:c.2197G>AMANE SELECT
NM_058174.3:c.2197G>A
NM_058175.3:c.2197G>A
NP_001840.3:p.Gly733Arg
NP_001840.3:p.Gly733Arg
NP_478054.2:p.Gly733Arg
NP_478055.2:p.Gly733Arg
LRG_476t1:c.2197G>A
LRG_476:g.32894G>A
LRG_476p1:p.Gly733Arg
NC_000021.8:g.47545926G>A
NM_001849.3:c.2197G>A

Protein change:

G733R

Links:

dbSNP: rs886042922

NCBI 1000 Genomes Browser:

rs886042922

Molecular consequence:

NM_001849.4:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_058174.3:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_058175.3:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001443854	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Uncertain significance (Jan 4, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 17886299, 15563506 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001443854

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Uncertain significance
(Jan 4, 2019)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Molecular consequences of dominant Bethlem myopathy collagen VI mutations.

Baker NL, Mörgelin M, Pace RA, Peat RA, Adams NE, Gardner RJ, Rowland LP, Miller G, De Jonghe P, Ceulemans B, Hannibal MC, Edwards M, Thompson EM, Jacobson R, Quinlivan RC, Aftimos S, Kornberg AJ, North KN, Bateman JF, Lamandé SR.

Ann Neurol. 2007 Oct;62(4):390-405.

PubMed [citation]

PMID:: 17886299

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.

Baker NL, Mörgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamandé SR.

Hum Mol Genet. 2005 Jan 15;14(2):279-93. Epub 2004 Nov 24.

PubMed [citation]

PMID:: 15563506

Details of each submission

From Ambry Genetics, SCV001443854.2

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

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

Last Updated: May 12, 2024

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