NM_007327.4(GRIN1):c.41_43del (p.Ser14del) AND Intellectual disability, autosomal dominant 8

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 26, 2020
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:: RCV001300754.7

Allele description [Variation Report for NM_007327.4(GRIN1):c.41_43del (p.Ser14del)]

NM_007327.4(GRIN1):c.41_43del (p.Ser14del)

Gene:

GRIN1:glutamate ionotropic receptor NMDA type subunit 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q34.3

Genomic location:

Preferred name:

NM_007327.4(GRIN1):c.41_43del (p.Ser14del)

HGVS:

NC_000009.12:g.137139527_137139529del
NG_011507.1:g.5371_5373del
NM_000832.7:c.41_43del
NM_001185090.2:c.41_43del
NM_001185091.2:c.41_43del
NM_007327.4:c.41_43delMANE SELECT
NM_021569.4:c.41_43del
NP_000823.4:p.Ser14del
NP_001172019.1:p.Ser14del
NP_001172020.1:p.Ser14del
NP_015566.1:p.Ser14del
NP_067544.1:p.Ser14del
NC_000009.11:g.140033977_140033979del
NC_000009.11:g.140033979_140033981del

Protein change:

S14del

Links:

dbSNP: rs778242525

NCBI 1000 Genomes Browser:

rs778242525

Molecular consequence:

NM_000832.7:c.41_43del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001185090.2:c.41_43del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001185091.2:c.41_43del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_007327.4:c.41_43del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_021569.4:c.41_43del - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001489903	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 26, 2020)	germline	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

SCV001489903

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 26, 2020)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001489903.4

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

Description

This variant, c.41_43del, results in the deletion of 1 amino acid(s) of the GRIN1 protein (p.Ser14del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs778242525, ExAC 0.004%). This variant has not been reported in the literature in individuals with GRIN1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024

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