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NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu) AND multiple conditions

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 23, 2017
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:
RCV000576771.9

Allele description [Variation Report for NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu)]

NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu)

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.6653C>T (p.Pro2218Leu)
HGVS:
  • NC_000002.12:g.237353378G>A
  • NG_008676.1:g.65830C>T
  • NM_004369.4:c.6653C>TMANE SELECT
  • NM_057166.5:c.4832C>T
  • NM_057167.4:c.6035C>T
  • NP_004360.2:p.Pro2218Leu
  • NP_476507.3:p.Pro1611Leu
  • NP_476508.2:p.Pro2012Leu
  • LRG_473t1:c.6653C>T
  • LRG_473:g.65830C>T
  • LRG_473p1:p.Pro2218Leu
  • NC_000002.11:g.238262021G>A
  • NM_004369.3:c.6653C>T
  • P12111:p.Pro2218Leu
Protein change:
P1611L
Links:
UniProtKB: P12111#VAR_047283; dbSNP: rs36117715
NCBI 1000 Genomes Browser:
rs36117715
Molecular consequence:
  • NM_004369.4:c.6653C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_057166.5:c.4832C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_057167.4:c.6035C>T - 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
Name:
Ullrich congenital muscular dystrophy 1A
Synonyms:
Late onset scleroatonic familial myopathy (subtype); Ullrich congenital muscular dystrophy 1
Identifiers:
MONDO: MONDO:0009681; MedGen: C0410179; Orphanet: 75840; OMIM: 254090

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000677197Athena Diagnostics Inc
criteria provided, single submitter

(Athena Diagnostics Criteria)		Benign
(Jun 23, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics Inc, SCV000677197.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2024