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NM_000089.4(COL1A2):c.594+5A>T 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:
RCV000709887.9

Allele description [Variation Report for NM_000089.4(COL1A2):c.594+5A>T]

NM_000089.4(COL1A2):c.594+5A>T

Gene:
COL1A2:collagen type I alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.3
Genomic location:
Preferred name:
NM_000089.4(COL1A2):c.594+5A>T
HGVS:
  • NC_000007.14:g.94406308A>T
  • NG_007405.1:g.16748A>T
  • NM_000089.4:c.594+5A>TMANE SELECT
  • LRG_2t1:c.594+5A>T
  • LRG_2:g.16748A>T
  • NC_000007.13:g.94035620A>T
  • NM_000089.3:c.594+5A>T
Links:
dbSNP: rs200744314
NCBI 1000 Genomes Browser:
rs200744314
Molecular consequence:
  • NM_000089.4:c.594+5A>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Osteogenesis imperfecta, perinatal lethal (OI2)
Synonyms:
OI, TYPE II; Osteogenesis imperfecta congenita perinatal lethal form; Osteogenesis imperfecta congenita; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008147; MedGen: C0268358; OMIM: 166210
Name:
Ehlers-Danlos syndrome, cardiac valvular type
Synonyms:
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
Identifiers:
MONDO: MONDO:0009159; MedGen: C4303789; Orphanet: 230851; OMIM: 225320
Name:
Ehlers-Danlos syndrome, arthrochalasia type
Synonyms:
EDS VII, MUTANT PROCOLLAGEN TYPE; EDS VIIA; Arthrochalasis multiplex congenita; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007525; MedGen: C4551623; Orphanet: 1899; Orphanet: 99875; Orphanet: 99876; OMIM: 130060

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000840228GenomeConnect, ClinGen
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, ClinGen, SCV000840228.1

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

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: May 26, 2024