NM_004369.4(COL6A3):c.1389C>T (p.Ala463=) AND not provided

Clinical significance:Benign (Last evaluated: Nov 26, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000991645.2

Allele description [Variation Report for NM_004369.4(COL6A3):c.1389C>T (p.Ala463=)]

NM_004369.4(COL6A3):c.1389C>T (p.Ala463=)

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.1389C>T (p.Ala463=)
HGVS:
  • NC_000002.12:g.237381423G>A
  • NG_008676.1:g.37785C>T
  • NM_004369.3:c.1389C>T
  • NM_004369.4:c.1389C>TMANE SELECT
  • NM_057164.5:c.168C>T
  • NM_057165.5:c.771C>T
  • NM_057166.5:c.168C>T
  • NM_057167.4:c.771C>T
  • NP_004360.2:p.Ala463=
  • NP_004360.2:p.Ala463=
  • NP_476505.3:p.Ala56=
  • NP_476506.3:p.Ala257=
  • NP_476507.3:p.Ala56=
  • NP_476508.2:p.Ala257=
  • LRG_473t1:c.1389C>T
  • LRG_473:g.37785C>T
  • LRG_473p1:p.Ala463=
  • NC_000002.11:g.238290066G>A
  • NP_004360.2:p.(=)
Links:
dbSNP: rs112896869
NCBI 1000 Genomes Browser:
rs112896869
Molecular consequence:
  • NM_004369.3:c.1389C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004369.4:c.1389C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_057164.5:c.168C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_057165.5:c.771C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_057166.5:c.168C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_057167.4:c.771C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001143273Athena Diagnostics Inccriteria provided, single submitter
Benign
(Nov 26, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV001800379Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Citations

PubMed

Molecular consequences of dominant Bethlem myopathy collagen VI mutations.

Baker NL, Mörgelin M, Pace RA, Peat RA, Adams NE, Gardner RJ, Rowland LP, Miller G, De Jonghe P, Ceulemans B, Hannibal MC, Edwards M, Thompson EM, Jacobson R, Quinlivan RC, Aftimos S, Kornberg AJ, North KN, Bateman JF, Lamandé SR.

Ann Neurol. 2007 Oct;62(4):390-405.

PubMed [citation]
PMID:
17886299

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 Athena Diagnostics Inc, SCV001143273.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001800379.1

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

Last Updated: Nov 27, 2021

Support Center