U.S. flag

An official website of the United States government

NM_007327.4(GRIN1):c.1782GGA[4] (p.Glu598del) AND Intellectual disability, autosomal dominant 8

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000988307.1

Allele description [Variation Report for NM_007327.4(GRIN1):c.1782GGA[4] (p.Glu598del)]

NM_007327.4(GRIN1):c.1782GGA[4] (p.Glu598del)

Gene:
GRIN1:glutamate ionotropic receptor NMDA type subunit 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_007327.4(GRIN1):c.1782GGA[4] (p.Glu598del)
HGVS:
  • NC_000009.12:g.137162434GGA[4]
  • NC_000009.12:g.137162434_137162436GGA[4]
  • NG_011507.1:g.28278GGA[4]
  • NM_000832.7:c.1782GGA[4]
  • NM_001185090.2:c.1845GGA[4]
  • NM_001185091.2:c.1845GGA[4]
  • NM_007327.4:c.1782GGA[4]MANE SELECT
  • NM_021569.4:c.1782GGA[4]
  • NP_000823.4:p.Glu598del
  • NP_001172019.1:p.Glu619del
  • NP_001172020.1:p.Glu619del
  • NP_015566.1:p.Glu598del
  • NP_067544.1:p.Glu598del
  • NC_000009.11:g.140056884_140056886delGAG
  • NC_000009.11:g.140056886GGA[4]
Protein change:
E598del
Links:
dbSNP: rs768704257
NCBI 1000 Genomes Browser:
rs768704257
Molecular consequence:
  • NM_000832.7:c.1782GGA[4] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001185090.2:c.1845GGA[4] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001185091.2:c.1845GGA[4] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_007327.4:c.1782GGA[4] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_021569.4:c.1782GGA[4] - inframe_deletion - [Sequence Ontology: SO:0001822]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001137975Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely benign
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001137975.1

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

Last Updated: Aug 5, 2023