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NM_004369.4(COL6A3):c.8359G>A (p.Ala2787Thr) AND Bethlem myopathy 1A

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 25, 2024
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV000820442.7

Allele description [Variation Report for NM_004369.4(COL6A3):c.8359G>A (p.Ala2787Thr)]

NM_004369.4(COL6A3):c.8359G>A (p.Ala2787Thr)

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.8359G>A (p.Ala2787Thr)
HGVS:
  • NC_000002.12:g.237340557C>T
  • NG_008676.1:g.78651G>A
  • NM_004369.4:c.8359G>AMANE SELECT
  • NM_057166.5:c.6538G>A
  • NM_057167.4:c.7741G>A
  • NP_004360.2:p.Ala2787Thr
  • NP_004360.2:p.Ala2787Thr
  • NP_476507.3:p.Ala2180Thr
  • NP_476508.2:p.Ala2581Thr
  • LRG_473t1:c.8359G>A
  • LRG_473:g.78651G>A
  • LRG_473p1:p.Ala2787Thr
  • NC_000002.11:g.238249200C>T
  • NM_004369.3:c.8359G>A
...more
Protein change:
A2180T
Links:
dbSNP: rs763395740
NCBI 1000 Genomes Browser:
rs763395740
Molecular consequence:
  • NM_004369.4:c.8359G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_057166.5:c.6538G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_057167.4:c.7741G>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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000961155Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Benign
(Jan 25, 2024)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Last Updated: Sep 29, 2024

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