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NM_000090.4(COL3A1):c.951+1G>A AND COL3A1-related disorder

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:
RCV000844985.1

Allele description [Variation Report for NM_000090.4(COL3A1):c.951+1G>A]

NM_000090.4(COL3A1):c.951+1G>A

Gene:
COL3A1:collagen type III alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q32.2
Genomic location:
Preferred name:
NM_000090.4(COL3A1):c.951+1G>A
HGVS:
  • NC_000002.12:g.188991723G>A
  • NG_007404.1:g.22351G>A
  • NM_000090.4:c.951+1G>AMANE SELECT
  • NP_000081.1:p.Gly300_Ala317del
  • LRG_3t1:c.951+1G>A
  • LRG_3:g.22351G>A
  • NC_000002.11:g.189856449G>A
  • NM_000090.3:c.951+1G>A
Links:
dbSNP: rs587779652
NCBI 1000 Genomes Browser:
rs587779652
Molecular consequence:
  • NM_000090.4:c.951+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
COL3A1-related disorder
Synonyms:
COL3A1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000986812GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

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Summary from all submissions

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

Details of each submission

From GenomeConnect, ClinGen, SCV000986812.1

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

Description

Variant interpretted as pathogenic and reported on 03/07/2018 by GTR ID 26957. 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
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025