NM_001849.4(COL6A2):c.1817-4_1817-3dup AND Myosclerosis

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 14, 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:: RCV000377799.5

Allele description [Variation Report for NM_001849.4(COL6A2):c.1817-4_1817-3dup]

NM_001849.4(COL6A2):c.1817-4_1817-3dup

Gene:

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

Variant type:

Duplication

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

NM_001849.4(COL6A2):c.1817-4_1817-3dup

HGVS:

NC_000021.9:g.46125461_46125462dup
NG_008675.1:g.32343_32344dup
NM_001849.4:c.1817-4_1817-3dupMANE SELECT
NM_058174.3:c.1817-4_1817-3dup
NM_058175.3:c.1817-4_1817-3dup
LRG_476t1:c.1817-4_1817-3dup
LRG_476:g.32343_32344dup
NC_000021.8:g.47545369_47545370insCC
NC_000021.8:g.47545375_47545376dup
NM_001849.3:c.1817-4_1817-3dup
NM_001849.3:c.1817-4_1817-3dupCC

Links:

dbSNP: rs149954350

NCBI 1000 Genomes Browser:

rs149954350

Molecular consequence:

NM_001849.4:c.1817-4_1817-3dup - intron variant - [Sequence Ontology: SO:0001627]
NM_058174.3:c.1817-4_1817-3dup - intron variant - [Sequence Ontology: SO:0001627]
NM_058175.3:c.1817-4_1817-3dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Myosclerosis
Synonyms:: MYOPATHY, MYOSCLEROTIC; MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL; Myosclerosis, autosomal recessive; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009714; MedGen: C1850671; Orphanet: 289380; OMIM: 255600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000436719	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000436719

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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 Illumina Laboratory Services, Illumina, SCV000436719.2

#	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

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