NM_001134407.3(GRIN2A):c.2686A>G (p.Lys896Glu) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 15, 2019
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:: RCV001772273.2

Allele description [Variation Report for NM_001134407.3(GRIN2A):c.2686A>G (p.Lys896Glu)]

NM_001134407.3(GRIN2A):c.2686A>G (p.Lys896Glu)

Gene:

GRIN2A:glutamate ionotropic receptor NMDA type subunit 2A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.2

Genomic location:

Preferred name:

NM_001134407.3(GRIN2A):c.2686A>G (p.Lys896Glu)

HGVS:

NC_000016.10:g.9764858T>C
NG_011812.2:g.422897A>G
NM_000833.5:c.2686A>G
NM_001134407.3:c.2686A>GMANE SELECT
NM_001134408.2:c.2686A>G
NP_000824.1:p.Lys896Glu
NP_001127879.1:p.Lys896Glu
NP_001127880.1:p.Lys896Glu
NC_000016.9:g.9858715T>C
NG_011812.1:g.422897A>G
NM_000833.3:c.2686A>G
NM_000833.4:c.2686A>G

Protein change:

K896E

Links:

dbSNP: rs1436853714

NCBI 1000 Genomes Browser:

rs1436853714

Molecular consequence:

NM_000833.5:c.2686A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001134407.3:c.2686A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001134408.2:c.2686A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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PREDICTED: Rattus norvegicus keratin associated protein 16-5 (Krtap16-5), transc...
PREDICTED: Rattus norvegicus keratin associated protein 16-5 (Krtap16-5), transcript variant X1, mRNA
gi|1958666202|ref|XM_039088620.1|

Nucleotide
Krtap16-5 keratin associated protein 16-5 [Rattus norvegicus]
Krtap16-5 keratin associated protein 16-5 [Rattus norvegicus]
Gene ID:680703

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001993316	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 15, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001993316

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 15, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001993316.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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