NM_007327.4(GRIN1):c.1011C>A (p.Arg337=) AND not provided

Clinical significance:Likely benign (Last evaluated: Aug 5, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001567057.3

Allele description [Variation Report for NM_007327.4(GRIN1):c.1011C>A (p.Arg337=)]

NM_007327.4(GRIN1):c.1011C>A (p.Arg337=)

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.1011C>A (p.Arg337=)
HGVS:
  • NC_000009.12:g.137158421C>A
  • NG_011507.1:g.24265C>A
  • NM_000832.7:c.1011C>A
  • NM_001185090.2:c.1074C>A
  • NM_001185091.2:c.1074C>A
  • NM_007327.4:c.1011C>AMANE SELECT
  • NM_021569.4:c.1011C>A
  • NP_000823.4:p.Arg337=
  • NP_001172019.1:p.Arg358=
  • NP_001172020.1:p.Arg358=
  • NP_015566.1:p.Arg337=
  • NP_067544.1:p.Arg337=
  • NC_000009.11:g.140052873C>A
  • NM_007327.3:c.1011C>A
Links:
dbSNP: rs138950430
NCBI 1000 Genomes Browser:
rs138950430
Molecular consequence:
  • NM_000832.7:c.1011C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001185090.2:c.1074C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001185091.2:c.1074C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007327.4:c.1011C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_021569.4:c.1011C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001790676GeneDxcriteria provided, single submitter
Likely benign
(Aug 5, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001790676.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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