NM_006904.7(PRKDC):c.3097A>G (p.Ile1033Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 7, 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:: RCV004660282.1

Allele description [Variation Report for NM_006904.7(PRKDC):c.3097A>G (p.Ile1033Val)]

NM_006904.7(PRKDC):c.3097A>G (p.Ile1033Val)

Gene:

PRKDC:protein kinase, DNA-activated, catalytic subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q11.21

Genomic location:

Preferred name:

NM_006904.7(PRKDC):c.3097A>G (p.Ile1033Val)

HGVS:

NC_000008.11:g.47902741T>C
NG_023435.1:g.62443A>G
NM_001081640.2:c.3097A>G
NM_006904.7:c.3097A>GMANE SELECT
NP_001075109.1:p.Ile1033Val
NP_008835.5:p.Ile1033Val
NP_008835.5:p.Ile1033Val
LRG_162t1:c.3097A>G
LRG_162:g.62443A>G
LRG_162p1:p.Ile1033Val
NC_000008.10:g.48815301T>C
NM_006904.6:c.3097A>G

Protein change:

I1033V

Molecular consequence:

NM_001081640.2:c.3097A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006904.7:c.3097A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005151479	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 7, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005151479

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 7, 2024)

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, SCV005151479.1

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

Description

The p.I1033V variant (also known as c.3097A>G), located in coding exon 27 of the PRKDC gene, results from an A to G substitution at nucleotide position 3097. The isoleucine at codon 1033 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant 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: Aug 11, 2024

ClinVar

Relating variation to medicine