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NM_001849.4(COL6A2):c.115+6del AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jun 20, 2019
Review status:
criteria provided, conflicting classifications
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:
RCV000725462.17

Allele description [Variation Report for NM_001849.4(COL6A2):c.115+6del]

NM_001849.4(COL6A2):c.115+6del

Gene:
COL6A2:collagen type VI alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_001849.4(COL6A2):c.115+6del
HGVS:
  • NC_000021.9:g.46111597del
  • NG_008675.1:g.18479del
  • NM_001849.4:c.115+6delMANE SELECT
  • NM_058174.3:c.115+6del
  • NM_058175.3:c.115+6del
  • LRG_476t1:c.115+6del
  • LRG_476:g.18479del
  • NC_000021.8:g.47531511del
  • NM_001849.3:c.115+6del
  • NM_001849.3:c.115+6delA
Links:
dbSNP: rs578127995
NCBI 1000 Genomes Browser:
rs578127995
Molecular consequence:
  • NM_001849.4:c.115+6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_058174.3:c.115+6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_058175.3:c.115+6del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
8

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000337121Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Feb 2, 2017) 		germlineclinical testing

Citation Link,

SCV000730690GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Jun 20, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown8not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000337121.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided8not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided8not providednot providednot provided

From GeneDx, SCV000730690.1

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

Description

This variant is associated with the following publications: (PMID: 30564623)

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

Last Updated: Nov 3, 2024