NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=) AND Spinocerebellar ataxia, autosomal recessive 13

Clinical significance:Benign (Last evaluated: Aug 10, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000611478.2

Allele description [Variation Report for NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=)]

NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=)

Gene:
GRM1:glutamate metabotropic receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q24.3
Genomic location:
Preferred name:
NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=)
HGVS:
  • NC_000006.12:g.146434379T>G
  • NG_012839.1:g.411734T>G
  • NG_012839.2:g.411734T>G
  • NM_001278064.2:c.3168T>GMANE SELECT
  • NM_001278065.2:c.*532T>G
  • NM_001278066.1:c.*497T>G
  • NM_001278067.1:c.*406T>G
  • NP_001264993.1:p.Gly1056=
  • NC_000006.11:g.146755515T>G
  • NM_001278064.1:c.3168T>G
Links:
dbSNP: rs6923864
NCBI 1000 Genomes Browser:
rs6923864
Molecular consequence:
  • NM_001278065.2:c.*532T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001278066.1:c.*497T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001278067.1:c.*406T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001278064.2:c.3168T>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Spinocerebellar ataxia, autosomal recessive 13 (SCAR13)
Identifiers:
MONDO: MONDO:0013905; MedGen: C3553816; Orphanet: 324262; OMIM: 614831

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000734484Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedBenigngermlineclinical testing

SCV001933993Nilou-Genome Labcriteria provided, single submitter
Benign
(Aug 10, 2021)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000734484.1

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

From Nilou-Genome Lab, SCV001933993.1

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

Last Updated: Nov 6, 2021

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