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NM_000834.5(GRIN2B):c.377T>C (p.Ile126Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 17, 2015
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:
RCV000235741.1

Allele description [Variation Report for NM_000834.5(GRIN2B):c.377T>C (p.Ile126Thr)]

NM_000834.5(GRIN2B):c.377T>C (p.Ile126Thr)

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.377T>C (p.Ile126Thr)
HGVS:
  • NC_000012.12:g.13865832A>G
  • NG_031854.2:g.121181T>C
  • NM_000834.5:c.377T>CMANE SELECT
  • NP_000825.2:p.Ile126Thr
  • NC_000012.11:g.14018766A>G
  • NM_000834.3:c.377T>C
Protein change:
I126T
Links:
dbSNP: rs879254008
NCBI 1000 Genomes Browser:
rs879254008
Molecular consequence:
  • NM_000834.5:c.377T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000293150GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Sep 17, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000293150.8

#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: Apr 23, 2022