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NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
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:
RCV000735341.2

Allele description [Variation Report for NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala)]

NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala)

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.2008A>G (p.Thr670Ala)
HGVS:
  • NC_000021.9:g.46125823A>G
  • NG_008675.1:g.32705A>G
  • NM_001849.4:c.2008A>GMANE SELECT
  • NM_058174.3:c.2008A>G
  • NM_058175.3:c.2008A>G
  • NP_001840.3:p.Thr670Ala
  • NP_001840.3:p.Thr670Ala
  • NP_478054.2:p.Thr670Ala
  • NP_478055.2:p.Thr670Ala
  • LRG_476t1:c.2008A>G
  • LRG_476:g.32705A>G
  • LRG_476p1:p.Thr670Ala
  • NC_000021.8:g.47545737A>G
  • NM_001849.3:c.2008A>G
Protein change:
T670A
Links:
dbSNP: rs753298014
NCBI 1000 Genomes Browser:
rs753298014
Molecular consequence:
  • NM_001849.4:c.2008A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058174.3:c.2008A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058175.3:c.2008A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Muscle weakness
Identifiers:
MedGen: C0151786; Human Phenotype Ontology: HP:0001324
Name:
Spasticity
Identifiers:
MedGen: C0026838; Human Phenotype Ontology: HP:0001257
Name:
Hypertonia
Identifiers:
MedGen: C0026826; Human Phenotype Ontology: HP:0001276
Name:
Neurogenic bladder
Identifiers:
MedGen: C0005697; Human Phenotype Ontology: HP:0000011
Name:
Spastic gait
Identifiers:
MedGen: C0231687; Human Phenotype Ontology: HP:0002064
Name:
Abnormal cerebral white matter morphology
Synonyms:
Abnormality of the cerebral white matter
Identifiers:
MedGen: C0948163; Human Phenotype Ontology: HP:0002500
Name:
Cerebral venous thrombosis
Identifiers:
MedGen: C0151945; Human Phenotype Ontology: HP:0005305
Name:
Bone marrow hypocellularity
Identifiers:
MedGen: C1855710; Human Phenotype Ontology: HP:0005528
Name:
Myelitis
Identifiers:
MONDO: MONDO:0002565; MedGen: C0026975; Human Phenotype Ontology: HP:0012486
Name:
Abnormal thalamic MRI signal intensity
Identifiers:
MedGen: C4022770; Human Phenotype Ontology: HP:0012696
Name:
Abnormal brainstem MRI signal intensity
Identifiers:
MedGen: C4022749; Human Phenotype Ontology: HP:0012747
Name:
Combined immunodeficiency
Synonyms:
Congenital combined immunodeficiency; Combined T and B cell immunodeficiency
Identifiers:
MONDO: MONDO:0015131; MedGen: C2711630; Human Phenotype Ontology: HP:0005387

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000854494Center for Personalized Medicine, Children's Hospital Los Angeles
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Non-Hispanicgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center for Personalized Medicine, Children's Hospital Los Angeles, SCV000854494.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Non-Hispanicnot providednot providednot providedclinical testing
(GTR000552474.2)		 PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot provideddiscovery
(GTR000552474.2)		not providednot providednot providednot provided

Last Updated: Sep 29, 2024