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NM_004370.6(COL12A1):c.8319+1G>C AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001535747.2

Allele description [Variation Report for NM_004370.6(COL12A1):c.8319+1G>C]

NM_004370.6(COL12A1):c.8319+1G>C

Gene:
COL12A1:collagen type XII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q13
Genomic location:
Preferred name:
NM_004370.6(COL12A1):c.8319+1G>C
HGVS:
  • NC_000006.12:g.75103756C>G
  • NG_042181.1:g.107152G>C
  • NM_004370.6:c.8319+1G>CMANE SELECT
  • NM_080645.3:c.4827+1G>C
  • NC_000006.11:g.75813472C>G
  • NM_004370.5:c.8319+1G>C
Links:
dbSNP: rs1768416586
NCBI 1000 Genomes Browser:
rs1768416586
Molecular consequence:
  • NM_004370.6:c.8319+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_080645.3:c.4827+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

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
Name:
Bethlem myopathy 2 (BTHLM2)
Identifiers:
MONDO: MONDO:0034022; MedGen: C4225313; Orphanet: 610; OMIM: 616471

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749870GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749870.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Likely pathogenic and reported on 08-12-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024