NM_000834.4(GRIN2B):c.2691C>T (p.Asn897=) AND not provided

Clinical significance:Benign (Last evaluated: Oct 25, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000084727.6

Allele description [Variation Report for NM_000834.4(GRIN2B):c.2691C>T (p.Asn897=)]

NM_000834.4(GRIN2B):c.2691C>T (p.Asn897=)

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_000834.4(GRIN2B):c.2691C>T (p.Asn897=)
Other names:
p.N897N:AAC>AAT
HGVS:
  • NC_000012.12:g.13564547G>A
  • NG_031854.2:g.422466C>T
  • NM_000834.4:c.2691C>T
  • NP_000825.2:p.Asn897=
  • NC_000012.11:g.13717481G>A
  • NM_000834.3:c.2691C>T
Links:
dbSNP: rs35125534
NCBI 1000 Genomes Browser:
rs35125534
Molecular consequence:
  • NM_000834.4:c.2691C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000116863Psychiatry Genetics Yale Universityno assertion providednot providednot providednot provided

SCV000842283Athena Diagnostics Inccriteria provided, single submitter
Benign
(Oct 25, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only

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 Psychiatry Genetics Yale University, SCV000116863.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

From Athena Diagnostics Inc, SCV000842283.1

#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: Sep 29, 2021

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