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NM_007327.4(GRIN1):c.1995G>C (p.Thr665=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 16, 2017
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:
RCV002313604.9

Allele description [Variation Report for NM_007327.4(GRIN1):c.1995G>C (p.Thr665=)]

NM_007327.4(GRIN1):c.1995G>C (p.Thr665=)

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.1995G>C (p.Thr665=)
HGVS:
  • NC_000009.12:g.137162721G>C
  • NG_011507.1:g.28565G>C
  • NM_000832.7:c.1995G>C
  • NM_001185090.2:c.2058G>C
  • NM_001185091.2:c.2058G>C
  • NM_007327.4:c.1995G>CMANE SELECT
  • NM_021569.4:c.1995G>C
  • NP_000823.4:p.Thr665=
  • NP_001172019.1:p.Thr686=
  • NP_001172020.1:p.Thr686=
  • NP_015566.1:p.Thr665=
  • NP_067544.1:p.Thr665=
  • NC_000009.11:g.140057173G>C
  • NM_007327.3:c.1995G>C
Links:
dbSNP: rs200127557
NCBI 1000 Genomes Browser:
rs200127557
Molecular consequence:
  • NM_000832.7:c.1995G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001185090.2:c.2058G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001185091.2:c.2058G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007327.4:c.1995G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_021569.4:c.1995G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000848731Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 16, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000848731.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024