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NM_007327.4(GRIN1):c.947A>G (p.Lys316Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 30, 2017
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:
RCV000521029.1

Allele description [Variation Report for NM_007327.4(GRIN1):c.947A>G (p.Lys316Arg)]

NM_007327.4(GRIN1):c.947A>G (p.Lys316Arg)

Gene:
GRIN1:glutamate ionotropic receptor NMDA type subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_007327.4(GRIN1):c.947A>G (p.Lys316Arg)
HGVS:
  • NC_000009.12:g.137157016A>G
  • NG_011507.1:g.22860A>G
  • NM_000832.7:c.947A>G
  • NM_001185090.2:c.1010A>G
  • NM_001185091.2:c.1010A>G
  • NM_007327.4:c.947A>GMANE SELECT
  • NM_021569.4:c.947A>G
  • NP_000823.4:p.Lys316Arg
  • NP_001172019.1:p.Lys337Arg
  • NP_001172020.1:p.Lys337Arg
  • NP_015566.1:p.Lys316Arg
  • NP_067544.1:p.Lys316Arg
  • NC_000009.11:g.140051468A>G
  • NM_007327.3:c.947A>G
Protein change:
K316R
Links:
dbSNP: rs1554768797
NCBI 1000 Genomes Browser:
rs1554768797
Molecular consequence:
  • NM_000832.7:c.947A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185090.2:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185091.2:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007327.4:c.947A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021569.4:c.947A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000618613GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 30, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000618613.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The K316R variant in the GRIN1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The K316R variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The K316R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Lysine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret K316R as a variant of uncertain significance.

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

Last Updated: Apr 23, 2022