NM_007327.4(GRIN1):c.378C>T (p.Ser126=) AND Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

Clinical significance:Likely benign (Last evaluated: May 18, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001419833.1

Allele description [Variation Report for NM_007327.4(GRIN1):c.378C>T (p.Ser126=)]

NM_007327.4(GRIN1):c.378C>T (p.Ser126=)

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.378C>T (p.Ser126=)
HGVS:
  • NC_000009.12:g.137142132C>T
  • NG_011507.1:g.7976C>T
  • NM_000832.7:c.378C>T
  • NM_001185090.2:c.378C>T
  • NM_001185091.2:c.378C>T
  • NM_007327.4:c.378C>TMANE SELECT
  • NM_021569.4:c.378C>T
  • NP_000823.4:p.Ser126=
  • NP_001172019.1:p.Ser126=
  • NP_001172020.1:p.Ser126=
  • NP_015566.1:p.Ser126=
  • NP_067544.1:p.Ser126=
  • NC_000009.11:g.140036584C>T
  • NM_007327.3:c.378C>T
Links:
dbSNP: rs1588686368
NCBI 1000 Genomes Browser:
rs1588686368
Molecular consequence:
  • NM_000832.7:c.378C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001185090.2:c.378C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001185091.2:c.378C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007327.4:c.378C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_021569.4:c.378C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD)
Synonyms:
Mental retardation, autosomal dominant 8; NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, WITH OR WITHOUT SEIZURES, AUTOSOMAL DOMINANT
Identifiers:
MONDO: MONDO:0013655; MedGen: C3280282; OMIM: 614254

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001622099Invitaecriteria provided, single submitter
Likely benign
(May 18, 2018)
germlineclinical testing

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

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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001622099.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2021

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