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NM_007327.4(GRIN1):c.1856T>A (p.Ile619Asn) AND Intellectual disability, autosomal dominant 8

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 19, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002267205.1

Allele description [Variation Report for NM_007327.4(GRIN1):c.1856T>A (p.Ile619Asn)]

NM_007327.4(GRIN1):c.1856T>A (p.Ile619Asn)

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.1856T>A (p.Ile619Asn)
HGVS:
  • NC_000009.12:g.137162508T>A
  • NG_011507.1:g.28352T>A
  • NM_000832.7:c.1856T>A
  • NM_001185090.2:c.1919T>A
  • NM_001185091.2:c.1919T>A
  • NM_007327.4:c.1856T>AMANE SELECT
  • NM_021569.4:c.1856T>A
  • NP_000823.4:p.Ile619Asn
  • NP_001172019.1:p.Ile640Asn
  • NP_001172020.1:p.Ile640Asn
  • NP_015566.1:p.Ile619Asn
  • NP_067544.1:p.Ile619Asn
  • NC_000009.11:g.140056960T>A
Protein change:
I619N
Links:
dbSNP: rs2131298693
NCBI 1000 Genomes Browser:
rs2131298693
Molecular consequence:
  • NM_000832.7:c.1856T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185090.2:c.1919T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185091.2:c.1919T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007327.4:c.1856T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021569.4:c.1856T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Intellectual disability, autosomal dominant 8 (NDHMSD)
Synonyms:
Mental retardation, autosomal dominant 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
Identifiers:
MONDO: MONDO:0013655; MedGen: C3280282; OMIM: 614254

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002549136Institute of Human Genetics, University of Goettingen
no assertion criteria provided
Uncertain significance
(Jul 19, 2022) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics, University of Goettingen, SCV002549136.1

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

Last Updated: Dec 24, 2023