NM_004369.4(COL6A3):c.5419G>A (p.Glu1807Lys) AND Bethlem myopathy 1A

Germline classification:: Benign (1 submission)
Last evaluated:: Dec 17, 2023
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:: RCV000812542.4

Allele description [Variation Report for NM_004369.4(COL6A3):c.5419G>A (p.Glu1807Lys)]

NM_004369.4(COL6A3):c.5419G>A (p.Glu1807Lys)

Gene:

COL6A3:collagen type VI alpha 3 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

Preferred name:

NM_004369.4(COL6A3):c.5419G>A (p.Glu1807Lys)

HGVS:

NC_000002.12:g.237366768C>T
NG_008676.1:g.52440G>A
NM_004369.4:c.5419G>AMANE SELECT
NM_057166.5:c.3598G>A
NM_057167.4:c.4801G>A
NP_004360.2:p.Glu1807Lys
NP_004360.2:p.Glu1807Lys
NP_476507.3:p.Glu1200Lys
NP_476508.2:p.Glu1601Lys
LRG_473t1:c.5419G>A
LRG_473:g.52440G>A
LRG_473p1:p.Glu1807Lys
NC_000002.11:g.238275411C>T
NM_004369.3:c.5419G>A

Protein change:

E1200K

Links:

dbSNP: rs781624176

NCBI 1000 Genomes Browser:

rs781624176

Molecular consequence:

NM_004369.4:c.5419G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_057166.5:c.3598G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_057167.4:c.4801G>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
SCV000952859	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Dec 17, 2023)	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

SCV000952859

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Dec 17, 2023)

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):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000952859.4

#	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: Apr 15, 2024

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