NM_002691.4(POLD1):c.835_837del (p.Glu279del) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 21, 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:: RCV002469204.1

Allele description [Variation Report for NM_002691.4(POLD1):c.835_837del (p.Glu279del)]

NM_002691.4(POLD1):c.835_837del (p.Glu279del)

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.835_837del (p.Glu279del)

HGVS:

NC_000019.10:g.50402530_50402532del
NG_033800.1:g.23208_23210del
NM_001256849.1:c.835_837del
NM_001308632.1:c.835_837del
NM_002691.4:c.835_837delMANE SELECT
NP_001243778.1:p.Glu279del
NP_001295561.1:p.Glu279del
NP_002682.2:p.Glu279del
LRG_785t1:c.835_837del
LRG_785t2:c.835_837del
LRG_785:g.23208_23210del
LRG_785p1:p.Glu279del
LRG_785p2:p.Glu279del
NC_000019.9:g.50905785_50905787del
NC_000019.9:g.50905787_50905789del
NM_001256849.1:c.835_837delGAG
NM_002691.2:c.835_837delGAG
NM_002691.3:c.835_837delGAG
NR_046402.2:n.880_882del

Protein change:

E279del

Links:

dbSNP: rs746341854

NCBI 1000 Genomes Browser:

rs746341854

Molecular consequence:

NM_001256849.1:c.835_837del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001308632.1:c.835_837del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_002691.4:c.835_837del - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_046402.2:n.880_882del - 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
SCV002766200	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Nov 21, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002766200

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Nov 21, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Co-occurrence of thyroid and breast cancer is associated with an increased oncogenic SNP burden.

Bakos B, Kiss A, Árvai K, Szili B, Deák-Kocsis B, Tobiás B, Putz Z, Ármós R, Balla B, Kósa J, Dank M, Valkusz Z, Takács I, Tabák Á, Lakatos P.

BMC Cancer. 2021 Jun 15;21(1):706. doi: 10.1186/s12885-021-08377-4.

PubMed [citation]

PMID:: 34130653
PMCID:: PMC8207626

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002766200.1

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

Description

Variant summary: POLD1 c.835_837delGAG (p.Glu279del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant allele was found at a frequency of 1.3e-05 in 222876 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.835_837delGAG has been reported in the literature in at least one individual affected with Thyroid and Breast Cancer without evidence of causality (Bakos_2021). This report does not provide unequivocal conclusions about association of the variant with Colorectal Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Seven clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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 25, 2024

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