U.S. flag

An official website of the United States government

NM_004369.4(COL6A3):c.8965+1G>A AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 7, 2016
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:
RCV000483769.1

Allele description [Variation Report for NM_004369.4(COL6A3):c.8965+1G>A]

NM_004369.4(COL6A3):c.8965+1G>A

Gene:
COL6A3:collagen type VI alpha 3 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
NM_004369.4(COL6A3):c.8965+1G>A
HGVS:
  • NC_000002.12:g.237336134C>T
  • NG_008676.1:g.83074G>A
  • NG_098092.1:g.452C>T
  • NM_004369.4:c.8965+1G>AMANE SELECT
  • NM_057166.5:c.7144+1G>A
  • NM_057167.4:c.8347+1G>A
  • LRG_473t1:c.8965+1G>A
  • LRG_473:g.83074G>A
  • NC_000002.11:g.238244777C>T
  • NM_004369.3:c.8965+1G>A
Links:
dbSNP: rs995147980
NCBI 1000 Genomes Browser:
rs995147980
Molecular consequence:
  • NM_004369.4:c.8965+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_057166.5:c.7144+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_057167.4:c.8347+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000571797GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Oct 7, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000571797.4

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

Description

The c.8965+1G>A variant in the COL6A3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 40. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.8965+1G>A variant was not observed in approximately 6200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.8965+1G>A variant is a strong candidate for a pathogenic variant.

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

Last Updated: Jun 10, 2023