NM_002691.4(POLD1):c.872T>C (p.Leu291Pro) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 9, 2019
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:: RCV001753884.2

Allele description [Variation Report for NM_002691.4(POLD1):c.872T>C (p.Leu291Pro)]

NM_002691.4(POLD1):c.872T>C (p.Leu291Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

Preferred name:

NM_002691.4(POLD1):c.872T>C (p.Leu291Pro)

HGVS:

NC_000019.10:g.50402643T>C
NG_033800.1:g.23321T>C
NM_001256849.1:c.872T>C
NM_001308632.1:c.872T>C
NM_002691.4:c.872T>CMANE SELECT
NP_001243778.1:p.Leu291Pro
NP_001295561.1:p.Leu291Pro
NP_002682.2:p.Leu291Pro
LRG_785t1:c.872T>C
LRG_785t2:c.872T>C
LRG_785:g.23321T>C
LRG_785p1:p.Leu291Pro
LRG_785p2:p.Leu291Pro
NC_000019.9:g.50905900T>C
NM_002691.3:c.872T>C
NR_046402.2:n.917T>C

Protein change:

L291P

Links:

dbSNP: rs199999050

NCBI 1000 Genomes Browser:

rs199999050

Molecular consequence:

NM_001256849.1:c.872T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001308632.1:c.872T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002691.4:c.872T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_046402.2:n.917T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001987877	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 9, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001987877

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 9, 2019)

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, SCV001987877.2

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Observed in an individual with endometrial cancer (Wong 2016); This variant is associated with the following publications: (PMID: 26748215)

#	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: Sep 29, 2024

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