NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jan 12, 2018)

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:
RCV000710911.2

Allele description [Variation Report for NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala)]

NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala)

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.6890G>C (p.Gly2297Ala)
HGVS:
  • NC_000002.12:g.237348653C>G
  • NG_008676.1:g.70555G>C
  • NM_004369.3:c.6890G>C
  • NM_004369.4:c.6890G>CMANE SELECT
  • NM_057166.5:c.5069G>C
  • NM_057167.4:c.6272G>C
  • NP_004360.2:p.Gly2297Ala
  • NP_004360.2:p.Gly2297Ala
  • NP_476507.3:p.Gly1690Ala
  • NP_476508.2:p.Gly2091Ala
  • LRG_473t1:c.6890G>C
  • LRG_473:g.70555G>C
  • LRG_473p1:p.Gly2297Ala
  • NC_000002.11:g.238257296C>G
Protein change:
G1690A
Links:
dbSNP: rs886043576
NCBI 1000 Genomes Browser:
rs886043576
Molecular consequence:
  • NM_004369.3:c.6890G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004369.4:c.6890G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_057166.5:c.5069G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_057167.4:c.6272G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000340817EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely pathogenic
(Mar 29, 2016)
germlineclinical testing

Citation Link,

SCV000841221Athena Diagnostics Inccriteria provided, single submitter
Likely pathogenic
(Jan 12, 2018)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown4not providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000340817.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided4not providednot providednot provided

From Athena Diagnostics Inc, SCV000841221.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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