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NM_007327.4(GRIN1):c.610G>A (p.Val204Met) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Feb 1, 2024
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:
RCV001664648.13

Allele description [Variation Report for NM_007327.4(GRIN1):c.610G>A (p.Val204Met)]

NM_007327.4(GRIN1):c.610G>A (p.Val204Met)

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.610G>A (p.Val204Met)
HGVS:
  • NC_000009.12:g.137149048G>A
  • NG_011507.1:g.14892G>A
  • NM_000832.7:c.610G>A
  • NM_001185090.2:c.673G>A
  • NM_001185091.2:c.673G>A
  • NM_007327.4:c.610G>AMANE SELECT
  • NM_021569.4:c.610G>A
  • NP_000823.4:p.Val204Met
  • NP_001172019.1:p.Val225Met
  • NP_001172020.1:p.Val225Met
  • NP_015566.1:p.Val204Met
  • NP_067544.1:p.Val204Met
  • NC_000009.11:g.140043500G>A
  • NM_007327.3:c.610G>A
Protein change:
V204M
Links:
dbSNP: rs140422926
NCBI 1000 Genomes Browser:
rs140422926
Molecular consequence:
  • NM_000832.7:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185090.2:c.673G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185091.2:c.673G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007327.4:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021569.4:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001874236GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Dec 11, 2020)
germlineclinical testing

Citation Link,

SCV003815174Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Dec 10, 2020)
germlineclinical testing

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

SCV004032909CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Uncertain significance
(Feb 1, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot 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, SCV001874236.1

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

From Revvity Omics, Revvity, SCV003815174.2

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

From CeGaT Center for Human Genetics Tuebingen, SCV004032909.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

GRIN1: PM2, PP2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Jun 17, 2024