NM_152683.4(PRIMPOL):c.932A>G (p.Lys311Arg) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: May 31, 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:: RCV004282041.1

Allele description [Variation Report for NM_152683.4(PRIMPOL):c.932A>G (p.Lys311Arg)]

NM_152683.4(PRIMPOL):c.932A>G (p.Lys311Arg)

Gene:

PRIMPOL:primase and DNA directed polymerase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q35.1

Genomic location:

Preferred name:

NM_152683.4(PRIMPOL):c.932A>G (p.Lys311Arg)

HGVS:

NC_000004.12:g.184678319A>G
NG_051582.1:g.33707A>G
NM_001300767.2:c.545A>G
NM_001300768.2:c.932A>G
NM_001345891.2:c.932A>G
NM_001345892.2:c.932A>G
NM_001345893.2:c.932A>G
NM_001345894.2:c.236A>G
NM_001345895.2:c.932A>G
NM_001345896.2:c.932A>G
NM_001345897.2:c.236A>G
NM_001345898.2:c.236A>G
NM_001345899.2:c.844+5859A>G
NM_001345900.2:c.407A>G
NM_001345901.2:c.236A>G
NM_152683.4:c.932A>GMANE SELECT
NP_001287696.1:p.Lys182Arg
NP_001287697.1:p.Lys311Arg
NP_001332820.1:p.Lys311Arg
NP_001332821.1:p.Lys311Arg
NP_001332822.1:p.Lys311Arg
NP_001332823.1:p.Lys79Arg
NP_001332824.1:p.Lys311Arg
NP_001332825.1:p.Lys311Arg
NP_001332826.1:p.Lys79Arg
NP_001332827.1:p.Lys79Arg
NP_001332829.1:p.Lys136Arg
NP_001332830.1:p.Lys79Arg
NP_689896.1:p.Lys311Arg
NC_000004.11:g.185599473A>G
NM_152683.2:c.932A>G
NR_144312.2:n.1237A>G
NR_144313.2:n.1237A>G

Protein change:

K136R

Molecular consequence:

NM_001345899.2:c.844+5859A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001300767.2:c.545A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001300768.2:c.932A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001345891.2:c.932A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001345892.2:c.932A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001345893.2:c.932A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001345894.2:c.236A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001345895.2:c.932A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001345896.2:c.932A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001345897.2:c.236A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001345898.2:c.236A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001345900.2:c.407A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001345901.2:c.236A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_152683.4:c.932A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_144312.2:n.1237A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_144313.2:n.1237A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003937640	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (May 31, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003937640

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(May 31, 2023)

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, SCV003937640.2

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

#	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 10, 2024

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