NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: May 10, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000539163.7

Allele description [Variation Report for NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile)]

NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile)

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.4006G>A (p.Val1336Ile)
HGVS:
  • NC_000002.12:g.237372011C>T
  • NG_008676.1:g.47197G>A
  • NM_004369.3:c.4006G>A
  • NM_004369.4:c.4006G>AMANE SELECT
  • NM_057164.5:c.2785G>A
  • NM_057165.5:c.3388G>A
  • NM_057166.5:c.2185G>A
  • NM_057167.4:c.3388G>A
  • NP_004360.2:p.Val1336Ile
  • NP_004360.2:p.Val1336Ile
  • NP_476505.3:p.Val929Ile
  • NP_476506.3:p.Val1130Ile
  • NP_476507.3:p.Val729Ile
  • NP_476508.2:p.Val1130Ile
  • LRG_473t1:c.4006G>A
  • LRG_473:g.47197G>A
  • LRG_473p1:p.Val1336Ile
  • NC_000002.11:g.238280654C>T
Protein change:
V1130I
Links:
dbSNP: rs144051775
NCBI 1000 Genomes Browser:
rs144051775
Molecular consequence:
  • NM_004369.3:c.4006G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004369.4:c.4006G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_057164.5:c.2785G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_057165.5:c.3388G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_057166.5:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_057167.4:c.3388G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000528292GeneDxcriteria provided, single submitter
Likely benign
(May 10, 2021)
germlineclinical testing

Citation Link,

SCV001153371CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Jun 1, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000528292.5

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001153371.7

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

Last Updated: Oct 30, 2021

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