NM_004369.4(COL6A3):c.7668+95C>A AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 16, 2018
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:
RCV000839209.1

Allele description [Variation Report for NM_004369.4(COL6A3):c.7668+95C>A]

NM_004369.4(COL6A3):c.7668+95C>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.7668+95C>A
HGVS:
  • NC_000002.12:g.237344255G>T
  • NG_008676.1:g.74953C>A
  • NM_004369.4:c.7668+95C>AMANE SELECT
  • NM_057166.5:c.5847+95C>A
  • NM_057167.4:c.7050+95C>A
  • LRG_473t1:c.7668+95C>A
  • LRG_473:g.74953C>A
  • NC_000002.11:g.238252898G>T
  • NM_004369.3:c.7668+95C>A
Links:
dbSNP: rs11885964
NCBI 1000 Genomes Browser:
rs11885964
Molecular consequence:
  • NM_004369.4:c.7668+95C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_057166.5:c.5847+95C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_057167.4:c.7050+95C>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000981095GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Jun 16, 2018) 		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, SCV000981095.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Dec 24, 2023