NM_152683.4(PRIMPOL):c.1273G>A (p.Ala425Thr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 18, 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:: RCV004515052.1

Allele description [Variation Report for NM_152683.4(PRIMPOL):c.1273G>A (p.Ala425Thr)]

NM_152683.4(PRIMPOL):c.1273G>A (p.Ala425Thr)

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.1273G>A (p.Ala425Thr)

HGVS:

NC_000004.12:g.184685662G>A
NG_051582.1:g.41050G>A
NM_001300767.2:c.886G>A
NM_001300768.2:c.1270G>A
NM_001345891.2:c.1273G>A
NM_001345892.2:c.1270G>A
NM_001345893.2:c.1270G>A
NM_001345894.2:c.577G>A
NM_001345895.2:c.1273G>A
NM_001345896.2:c.1270G>A
NM_001345897.2:c.577G>A
NM_001345898.2:c.574G>A
NM_001345899.2:c.1021G>A
NM_001345900.2:c.748G>A
NM_001345901.2:c.577G>A
NM_152683.4:c.1273G>AMANE SELECT
NP_001287696.1:p.Ala296Thr
NP_001287697.1:p.Ala424Thr
NP_001332820.1:p.Ala425Thr
NP_001332821.1:p.Ala424Thr
NP_001332822.1:p.Ala424Thr
NP_001332823.1:p.Ala193Thr
NP_001332824.1:p.Ala425Thr
NP_001332825.1:p.Ala424Thr
NP_001332826.1:p.Ala193Thr
NP_001332827.1:p.Ala192Thr
NP_001332828.1:p.Ala341Thr
NP_001332829.1:p.Ala250Thr
NP_001332830.1:p.Ala193Thr
NP_689896.1:p.Ala425Thr
NC_000004.11:g.185606816G>A
NM_152683.2:c.1273G>A
NR_144312.2:n.1578G>A
NR_144313.2:n.1489G>A
NR_144314.2:n.1415G>A

Protein change:

A192T

Molecular consequence:

NM_001300767.2:c.886G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001300768.2:c.1270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001345891.2:c.1273G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001345892.2:c.1270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001345893.2:c.1270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001345894.2:c.577G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001345895.2:c.1273G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001345896.2:c.1270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001345897.2:c.577G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001345898.2:c.574G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001345899.2:c.1021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001345900.2:c.748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001345901.2:c.577G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_152683.4:c.1273G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_144312.2:n.1578G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_144313.2:n.1489G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_144314.2:n.1415G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Homo sapiens distal membrane arm assembly component 2 (DMAC2), transcript varian...
Homo sapiens distal membrane arm assembly component 2 (DMAC2), transcript variant 9, mRNA
gi|1677531324|ref|NM_001320839.2|

Nucleotide
myomesin-1 isoform X1 [Mus musculus]
myomesin-1 isoform X1 [Mus musculus]
gi|1907122802|ref|XP_036016258.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005010917	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 18, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005010917

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 18, 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, SCV005010917.1

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

Description

The c.1273G>A (p.A425T) alteration is located in exon 11 (coding exon 9) of the PRIMPOL gene. This alteration results from a G to A substitution at nucleotide position 1273, causing the alanine (A) at amino acid position 425 to be replaced by a threonine (T). 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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