NM_001493.3(GDI1):c.865G>C (p.Asp289His) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 26, 2017
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:: RCV002316815.9

Allele description [Variation Report for NM_001493.3(GDI1):c.865G>C (p.Asp289His)]

NM_001493.3(GDI1):c.865G>C (p.Asp289His)

Gene:

GDI1:GDP dissociation inhibitor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001493.3(GDI1):c.865G>C (p.Asp289His)

HGVS:

NC_000023.11:g.154441668G>C
NG_008954.1:g.9757G>C
NG_013233.1:g.2531G>C
NM_001493.3:c.865G>CMANE SELECT
NP_001484.1:p.Asp289His
NC_000023.10:g.153670015G>C
NM_001493.2:c.865G>C

Protein change:

D289H

Links:

dbSNP: rs1569553456

NCBI 1000 Genomes Browser:

rs1569553456

Molecular consequence:

NM_001493.3:c.865G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000850567	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 26, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000850567

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 26, 2017)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV000850567.5

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

Description

The p.D289H variant (also known as c.865G>C), located in coding exon 8 of the GDI1 gene, results from a G to C substitution at nucleotide position 865. The aspartic acid at codon 289 is replaced by histidine, an amino acid with some similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Nov 24, 2024

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