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NM_000834.5(GRIN2B):c.4311C>T (p.Ala1437=) AND History of neurodevelopmental disorder

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 21, 2016
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:
RCV000719176.2

Allele description

NM_000834.5(GRIN2B):c.4311C>T (p.Ala1437=)

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.4311C>T (p.Ala1437=)
HGVS:
  • NC_000012.12:g.13562927G>A
  • NG_031854.2:g.424086C>T
  • NM_000834.5:c.4311C>TMANE SELECT
  • NP_000825.2:p.Ala1437=
  • NC_000012.11:g.13715861G>A
  • NM_000834.3:c.4311C>T
Links:
dbSNP: rs112265127
NCBI 1000 Genomes Browser:
rs112265127
Molecular consequence:
  • NM_000834.5:c.4311C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000850042Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Likely benign
(Jun 21, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000850042.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Synonymous alterations with insufficient evidence to classify as benign

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

Last Updated: Aug 23, 2022