NM_001849.4(COL6A2):c.2083G>A (p.Glu695Lys) AND Bethlem myopathy 1A

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 23, 2024
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:: RCV000653539.4

Allele description [Variation Report for NM_001849.4(COL6A2):c.2083G>A (p.Glu695Lys)]

NM_001849.4(COL6A2):c.2083G>A (p.Glu695Lys)

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.2083G>A (p.Glu695Lys)

HGVS:

NC_000021.9:g.46125898G>A
NG_008675.1:g.32780G>A
NM_001849.4:c.2083G>AMANE SELECT
NM_058174.3:c.2083G>A
NM_058175.3:c.2083G>A
NP_001840.3:p.Glu695Lys
NP_001840.3:p.Glu695Lys
NP_478054.2:p.Glu695Lys
NP_478055.2:p.Glu695Lys
LRG_476t1:c.2083G>A
LRG_476:g.32780G>A
LRG_476p1:p.Glu695Lys
NC_000021.8:g.47545812G>A
NM_001849.3:c.2083G>A

Protein change:

E695K

Links:

dbSNP: rs377376395

NCBI 1000 Genomes Browser:

rs377376395

Molecular consequence:

NM_001849.4:c.2083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_058174.3:c.2083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_058175.3:c.2083G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Bethlem myopathy 1A
Synonyms:: Myopathy, benign congenital, with contractures; Bethlem myopathy 1
Identifiers:: MONDO: MONDO:0024530; MedGen: CN029274; Orphanet: 610; OMIM: 158810

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000775420	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 23, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000775420

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 23, 2024)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000775420.3

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

#	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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