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NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp) AND not specified

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Dec 26, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000301747.5

Allele description [Variation Report for NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp)]

NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp)

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.5968C>T (p.Arg1990Trp)
HGVS:
  • NC_000002.12:g.237363348G>A
  • NG_008676.1:g.55860C>T
  • NM_004369.4:c.5968C>TMANE SELECT
  • NM_057166.5:c.4147C>T
  • NM_057167.4:c.5350C>T
  • NP_004360.2:p.Arg1990Trp
  • NP_004360.2:p.Arg1990Trp
  • NP_476507.3:p.Arg1383Trp
  • NP_476508.2:p.Arg1784Trp
  • LRG_473t1:c.5968C>T
  • LRG_473:g.55860C>T
  • LRG_473p1:p.Arg1990Trp
  • NC_000002.11:g.238271991G>A
  • NM_004369.3:c.5968C>T
  • NM_057166.4:c.4147C>T
Protein change:
R1383W
Links:
dbSNP: rs146546544
NCBI 1000 Genomes Browser:
rs146546544
Molecular consequence:
  • NM_004369.4:c.5968C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_057166.5:c.4147C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_057167.4:c.5350C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000338837Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Likely benign
(Jan 29, 2016) 		germlineclinical testing

Citation Link,

SCV000725898GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Dec 26, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000338837.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV000725898.1

#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: Nov 3, 2024