NM_000834.5(GRIN2B):c.228C>T (p.Thr76=) AND History of neurodevelopmental disorder

Clinical significance:Likely benign (Last evaluated: Feb 20, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000718198.1

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]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000849060Ambry Geneticscriteria provided, single submitter
Likely benign
(Feb 20, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000849060.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

Support Center