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NM_001851.6(COL9A1):c.876+2dup AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 2, 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:
RCV000479843.2

Allele description [Variation Report for NM_001851.6(COL9A1):c.876+2dup]

NM_001851.6(COL9A1):c.876+2dup

Gene:
COL9A1:collagen type IX alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6q13
Genomic location:
Preferred name:
NM_001851.6(COL9A1):c.876+2dup
HGVS:
  • NC_000006.12:g.70281388dup
  • NG_011654.1:g.26696dup
  • NM_001377289.1:c.147+2dup
  • NM_001377290.1:c.147+2dup
  • NM_001377291.1:c.876+2dup
  • NM_001851.6:c.876+2dupMANE SELECT
  • NM_078485.4:c.147+2dup
  • NC_000006.11:g.70991090_70991091insA
  • NC_000006.11:g.70991091dup
  • NM_001851.4:c.876+2dup
  • NM_001851.4:c.876+2dupT
Links:
OMIM: 120210.0001; dbSNP: rs672601329
NCBI 1000 Genomes Browser:
rs672601329
Molecular consequence:
  • NM_001377289.1:c.147+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001377290.1:c.147+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001377291.1:c.876+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001851.6:c.876+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_078485.4:c.147+2dup - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000564906GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Oct 2, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000564906.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

A variant of uncertain significance has been identified in the COL9A1 gene. The c.876+2dupT variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The c.876+2duptT variant is predicted to destroy the canonical splice donor site in intron 8 with the adjacent exon remaining inframe. This variant may result in abnormal gene splicing; however, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined.

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

Last Updated: May 12, 2024