U.S. flag

An official website of the United States government

NM_007327.4(GRIN1):c.2589+6G>T AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
May 1, 2020
Review status:
criteria provided, conflicting classifications
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:
RCV001508290.8

Allele description [Variation Report for NM_007327.4(GRIN1):c.2589+6G>T]

NM_007327.4(GRIN1):c.2589+6G>T

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.2589+6G>T
HGVS:
  • NC_000009.12:g.137163910G>T
  • NG_011507.1:g.29754G>T
  • NM_000832.7:c.2589+6G>T
  • NM_001185090.2:c.2652+6G>T
  • NM_001185091.2:c.2652+6G>T
  • NM_007327.4:c.2589+6G>TMANE SELECT
  • NM_021569.4:c.2589+6G>T
  • NC_000009.11:g.140058362G>T
  • NM_007327.3:c.2589+6G>T
Links:
dbSNP: rs200395927
NCBI 1000 Genomes Browser:
rs200395927
Molecular consequence:
  • NM_000832.7:c.2589+6G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001185090.2:c.2652+6G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001185091.2:c.2652+6G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007327.4:c.2589+6G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_021569.4:c.2589+6G>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000530328GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Oct 11, 2018)
germlineclinical testing

Citation Link,

SCV001714344Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(May 1, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneDx, SCV000530328.4

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV001714344.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 28, 2024