NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=) AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Mar 1, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001531521.2

Allele description [Variation Report for NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=)]

NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=)

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.4107C>T (p.Ile1369=)
HGVS:
  • NC_000002.12:g.237371910G>A
  • NG_008676.1:g.47298C>T
  • NM_004369.3:c.4107C>T
  • NM_004369.4:c.4107C>TMANE SELECT
  • NM_057164.5:c.2886C>T
  • NM_057165.5:c.3489C>T
  • NM_057166.5:c.2286C>T
  • NM_057167.4:c.3489C>T
  • NP_004360.2:p.Ile1369=
  • NP_004360.2:p.Ile1369=
  • NP_476505.3:p.Ile962=
  • NP_476506.3:p.Ile1163=
  • NP_476507.3:p.Ile762=
  • NP_476508.2:p.Ile1163=
  • LRG_473t1:c.4107C>T
  • LRG_473:g.47298C>T
  • LRG_473p1:p.Ile1369=
  • NC_000002.11:g.238280553G>A
  • NP_004360.2:p.(=)
Links:
dbSNP: rs35114079
NCBI 1000 Genomes Browser:
rs35114079
Molecular consequence:
  • NM_004369.3:c.4107C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004369.4:c.4107C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_057164.5:c.2886C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_057165.5:c.3489C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_057166.5:c.2286C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_057167.4:c.3489C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000519762GeneDxcriteria provided, single submitter
Benign
(Feb 15, 2019)
germlineclinical testing

Citation Link,

SCV001746705CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Mar 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000519762.4

#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, SCV001746705.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 30, 2021

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