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NM_000834.5(GRIN2B):c.23G>C (p.Cys8Ser) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 1, 2018
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:
RCV000460411.10

Allele description [Variation Report for NM_000834.5(GRIN2B):c.23G>C (p.Cys8Ser)]

NM_000834.5(GRIN2B):c.23G>C (p.Cys8Ser)

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.23G>C (p.Cys8Ser)
HGVS:
  • NC_000012.12:g.13866186C>G
  • NG_031854.2:g.120827G>C
  • NM_000834.5:c.23G>CMANE SELECT
  • NP_000825.2:p.Cys8Ser
  • NC_000012.11:g.14019120C>G
  • NM_000834.3:c.23G>C
Protein change:
C8S
Links:
dbSNP: rs1060503160
NCBI 1000 Genomes Browser:
rs1060503160
Molecular consequence:
  • NM_000834.5:c.23G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Intellectual disability, autosomal dominant 6 (MRD6)
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES
Identifiers:
MONDO: MONDO:0013509; MedGen: C3151411; OMIM: 613970
Name:
Developmental and epileptic encephalopathy, 27 (DEE27)
Synonyms:
Epileptic encephalopathy, early infantile, 27
Identifiers:
MONDO: MONDO:0014505; MedGen: C4015316; Orphanet: 3451; OMIM: 616139

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000552124Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 1, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000552124.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a GRIN2B-related disease. This sequence change replaces cysteine with serine at codon 8 of the GRIN2B protein (p.Cys8Ser). The cysteine residue is moderately conserved and there is a moderate physicochemical difference between cysteine and serine.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024