NM_007327.4(GRIN1):c.2417C>T (p.Ala806Val) AND Intellectual disability, autosomal dominant 8

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Apr 20, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002272383.4

Allele description [Variation Report for NM_007327.4(GRIN1):c.2417C>T (p.Ala806Val)]

NM_007327.4(GRIN1):c.2417C>T (p.Ala806Val)

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.2417C>T (p.Ala806Val)

HGVS:

NC_000009.12:g.137163642C>T
NG_011507.1:g.29486C>T
NM_000832.7:c.2417C>T
NM_001185090.2:c.2480C>T
NM_001185091.2:c.2480C>T
NM_007327.4:c.2417C>TMANE SELECT
NM_021569.4:c.2417C>T
NP_000823.4:p.Ala806Val
NP_001172019.1:p.Ala827Val
NP_001172020.1:p.Ala827Val
NP_015566.1:p.Ala806Val
NP_067544.1:p.Ala806Val
NC_000009.11:g.140058094C>T
NM_001185090.2:c.2480C>T
NM_007327.3:c.2417C>T

Protein change:

A806V

Links:

dbSNP: rs1554770589

NCBI 1000 Genomes Browser:

rs1554770589

Molecular consequence:

NM_000832.7:c.2417C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001185090.2:c.2480C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001185091.2:c.2480C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007327.4:c.2417C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_021569.4:c.2417C>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002556591	Genetics and Molecular Pathology, SA Pathology See additional submitters Shariant Australia, Australian Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 2, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004041432	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 20, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002556591

Genetics and Molecular Pathology, SA Pathology

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 2, 2021)

germline

clinical testing

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

SCV004041432

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 20, 2023)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Genetics and Molecular Pathology, SA Pathology, SCV002556591.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

PS2, PM2, PM1

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004041432.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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