NM_000834.5(GRIN2B):c.228C>T (p.Thr76=) AND Mental retardation, autosomal dominant 6

Clinical significance:Likely benign (Last evaluated: Jun 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000604796.2

Allele description [Variation Report for NM_000834.5(GRIN2B):c.228C>T (p.Thr76=)]

NM_000834.5(GRIN2B):c.228C>T (p.Thr76=)

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.228C>T (p.Thr76=)
Other names:
p.T76T:ACC>ACT
HGVS:
  • NC_000012.12:g.13865981G>A
  • NG_031854.2:g.121032C>T
  • NM_000834.5:c.228C>TMANE SELECT
  • NP_000825.2:p.Thr76=
  • NC_000012.11:g.14018915G>A
  • NM_000834.3:c.228C>T
Links:
dbSNP: rs77299791
NCBI 1000 Genomes Browser:
rs77299791
Molecular consequence:
  • NM_000834.5:c.228C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Mental retardation, autosomal dominant 6 (MRD6)
Synonyms:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES
Identifiers:
MONDO: MONDO:0013509; MedGen: C3151411; OMIM: 613970

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000733146Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

SCV000745555Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensuscriteria provided, single submitter
Likely benign
(Jun 28, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000733146.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000745555.1

#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

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