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NM_007327.4(GRIN1):c.1044C>T (p.Phe348=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 2, 2016
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:
RCV002311500.9

Allele description [Variation Report for NM_007327.4(GRIN1):c.1044C>T (p.Phe348=)]

NM_007327.4(GRIN1):c.1044C>T (p.Phe348=)

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.1044C>T (p.Phe348=)
HGVS:
  • NC_000009.12:g.137158454C>T
  • NG_011507.1:g.24298C>T
  • NM_000832.7:c.1044C>T
  • NM_001185090.2:c.1107C>T
  • NM_001185091.2:c.1107C>T
  • NM_007327.4:c.1044C>TMANE SELECT
  • NM_021569.4:c.1044C>T
  • NP_000823.4:p.Phe348=
  • NP_001172019.1:p.Phe369=
  • NP_001172020.1:p.Phe369=
  • NP_015566.1:p.Phe348=
  • NP_067544.1:p.Phe348=
  • NC_000009.11:g.140052906C>T
  • NM_007327.3:c.1044C>T
Links:
dbSNP: rs143483243
NCBI 1000 Genomes Browser:
rs143483243
Molecular consequence:
  • NM_000832.7:c.1044C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001185090.2:c.1107C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001185091.2:c.1107C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007327.4:c.1044C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_021569.4:c.1044C>T - 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
SCV000846434Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 2, 2016) 		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, SCV000846434.5

#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: Oct 26, 2024