NM_020820.4(PREX1):c.3187G>A (p.Gly1063Ser) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 26, 2023
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:: RCV004514938.1

Allele description [Variation Report for NM_020820.4(PREX1):c.3187G>A (p.Gly1063Ser)]

NM_020820.4(PREX1):c.3187G>A (p.Gly1063Ser)

Gene:

PREX1:phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.13

Genomic location:

Preferred name:

NM_020820.4(PREX1):c.3187G>A (p.Gly1063Ser)

HGVS:

NC_000020.11:g.48649418C>T
NM_020820.4:c.3187G>AMANE SELECT
NP_065871.3:p.Gly1063Ser
NC_000020.10:g.47265956C>T
NM_020820.3:c.3187G>A

Protein change:

G1063S

Molecular consequence:

NM_020820.4:c.3187G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Pan3 PAN3 poly(A) specific ribonuclease subunit [Mus musculus]
Pan3 PAN3 poly(A) specific ribonuclease subunit [Mus musculus]
Gene ID:72587

Gene
Gpr63 G protein-coupled receptor 63 [Mus musculus]
Gpr63 G protein-coupled receptor 63 [Mus musculus]
Gene ID:81006

Gene
Msn moesin [Mus musculus]
Msn moesin [Mus musculus]
Gene ID:17698

Gene
Cry1 cryptochrome circadian regulator 1 [Mus musculus]
Cry1 cryptochrome circadian regulator 1 [Mus musculus]
Gene ID:12952

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005010364	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 26, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005010364

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 26, 2023)

germline

clinical testing

Citation Link

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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, SCV005010364.1

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

Description

The c.3187G>A (p.G1063S) alteration is located in exon 25 (coding exon 25) of the PREX1 gene. This alteration results from a G to A substitution at nucleotide position 3187, causing the glycine (G) at amino acid position 1063 to be replaced by a serine (S). Based on insufficient or conflicting evidence, 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: May 7, 2024

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