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NM_000834.5(GRIN2B):c.3040C>A (p.Gln1014Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 1, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000994856.17

Allele description [Variation Report for NM_000834.5(GRIN2B):c.3040C>A (p.Gln1014Lys)]

NM_000834.5(GRIN2B):c.3040C>A (p.Gln1014Lys)

Gene:
GRIN2B:glutamate ionotropic receptor NMDA type subunit 2B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.1
Genomic location:
Preferred name:
NM_000834.5(GRIN2B):c.3040C>A (p.Gln1014Lys)
HGVS:
  • NC_000012.12:g.13564198G>T
  • NG_031854.2:g.422815C>A
  • NM_000834.5:c.3040C>AMANE SELECT
  • NP_000825.2:p.Gln1014Lys
  • NC_000012.11:g.13717132G>T
Protein change:
Q1014K
Links:
dbSNP: rs1555102419
NCBI 1000 Genomes Browser:
rs1555102419
Molecular consequence:
  • NM_000834.5:c.3040C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001148651CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Uncertain significance
(Nov 1, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001148651.22

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

Last Updated: May 12, 2024