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NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu) AND Inborn genetic diseases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 21, 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:
RCV001265786.2

Allele description [Variation Report for NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu)]

NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu)

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.1979C>T (p.Pro660Leu)
HGVS:
  • NC_000009.12:g.137162705C>T
  • NG_011507.1:g.28549C>T
  • NM_000832.7:c.1979C>T
  • NM_001185090.2:c.2042C>T
  • NM_001185091.2:c.2042C>T
  • NM_007327.4:c.1979C>TMANE SELECT
  • NM_021569.4:c.1979C>T
  • NP_000823.4:p.Pro660Leu
  • NP_001172019.1:p.Pro681Leu
  • NP_001172020.1:p.Pro681Leu
  • NP_015566.1:p.Pro660Leu
  • NP_067544.1:p.Pro660Leu
  • NC_000009.11:g.140057157C>T
  • NC_000009.11:g.140057157C>T
  • NM_007327.3:c.1979C>T
  • p.Pro681Leu
Protein change:
P660L
Links:
dbSNP: rs1328780843
NCBI 1000 Genomes Browser:
rs1328780843
Molecular consequence:
  • NM_000832.7:c.1979C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185090.2:c.2042C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185091.2:c.2042C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007327.4:c.1979C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021569.4:c.1979C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001443956Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))
Likely pathogenic
(Jun 21, 2018)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
African American/Caucasian/Hispanic/Native Americangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

NMDAR channel segments forming the extracellular vestibule inferred from the accessibility of substituted cysteines.

Beck C, Wollmuth LP, Seeburg PH, Sakmann B, Kuner T.

Neuron. 1999 Mar;22(3):559-70.

PubMed [citation]
PMID:
10197535

DRPEER: a motif in the extracellular vestibule conferring high Ca2+ flux rates in NMDA receptor channels.

Watanabe J, Beck C, Kuner T, Premkumar LS, Wollmuth LP.

J Neurosci. 2002 Dec 1;22(23):10209-16.

PubMed [citation]
PMID:
12451122
PMCID:
PMC6758750
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV001443956.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1African American/Caucasian/Hispanic/Native American1not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024