NM_002691.4(POLD1):c.1567del (p.Leu523fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 1, 2022
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:: RCV002464875.1

Allele description [Variation Report for NM_002691.4(POLD1):c.1567del (p.Leu523fs)]

NM_002691.4(POLD1):c.1567del (p.Leu523fs)

Gene:

POLD1:DNA polymerase delta 1, catalytic subunit [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19q13.33

Genomic location:

Preferred name:

NM_002691.4(POLD1):c.1567del (p.Leu523fs)

HGVS:

NC_000019.10:g.50407055del
NG_033800.1:g.27733del
NM_001256849.1:c.1567del
NM_001308632.1:c.1567del
NM_002691.4:c.1567delMANE SELECT
NP_001243778.1:p.Leu523fs
NP_001295561.1:p.Leu523fs
NP_002682.2:p.Leu523fs
LRG_785t1:c.1567del
LRG_785t2:c.1567del
LRG_785:g.27733del
LRG_785p1:p.Leu523fs
LRG_785p2:p.Leu523fs
NC_000019.9:g.50910312del
NM_002691.3:c.1567del
NR_046402.2:n.1612del

Protein change:

L523fs

Molecular consequence:

NM_001256849.1:c.1567del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001308632.1:c.1567del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_002691.4:c.1567del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_046402.2:n.1612del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002759129	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002759129

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 1, 2022)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV002759129.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; Some missense variants in POLD1 have been recognized as an underlying cause of Polymerase Proofreading-Associated Polyposis (PPAP); however, there are no data at this time to support that loss-of-function variants confer the same cancer risks

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 17, 2022

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