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NM_001366722.1(GRIP1):c.1015C>T (p.Arg339Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 2, 2024
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:
RCV004629243.1

Allele description [Variation Report for NM_001366722.1(GRIP1):c.1015C>T (p.Arg339Trp)]

NM_001366722.1(GRIP1):c.1015C>T (p.Arg339Trp)

Gene:
GRIP1:glutamate receptor interacting protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q14.3
Genomic location:
Preferred name:
NM_001366722.1(GRIP1):c.1015C>T (p.Arg339Trp)
HGVS:
  • NC_000012.12:g.66462951G>A
  • NG_021400.2:g.611315C>T
  • NM_001178074.2:c.1015C>T
  • NM_001366722.1:c.1015C>TMANE SELECT
  • NM_001366723.1:c.1093C>T
  • NM_001366724.1:c.1093C>T
  • NM_021150.4:c.1015C>T
  • NP_001171545.1:p.Arg339Trp
  • NP_001353651.1:p.Arg339Trp
  • NP_001353652.1:p.Arg365Trp
  • NP_001353653.1:p.Arg365Trp
  • NP_066973.2:p.Arg339Trp
  • NC_000012.11:g.66856731G>A
  • NG_021400.1:g.221195C>T
  • NM_021150.3:c.1015C>T
Protein change:
R339W
Links:
dbSNP: rs377476830
NCBI 1000 Genomes Browser:
rs377476830
Molecular consequence:
  • NM_001178074.2:c.1015C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001366722.1:c.1015C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001366723.1:c.1093C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001366724.1:c.1093C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021150.4:c.1015C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV005125989Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 2, 2024) 		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, SCV005125989.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1015C>T (p.R339W) alteration is located in exon 9 (coding exon 9) of the GRIP1 gene. This alteration results from a C to T substitution at nucleotide position 1015, causing the arginine (R) at amino acid position 339 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024