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NM_002691.4(POLD1):c.1601_1612del (p.Glu534_Arg537del) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 12, 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:
RCV002398696.2

Allele description [Variation Report for NM_002691.4(POLD1):c.1601_1612del (p.Glu534_Arg537del)]

NM_002691.4(POLD1):c.1601_1612del (p.Glu534_Arg537del)

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.1601_1612del (p.Glu534_Arg537del)
HGVS:
  • NC_000019.10:g.50407089_50407100del
  • NG_033800.1:g.27767_27778del
  • NM_001256849.1:c.1601_1612del
  • NM_001308632.1:c.1601_1612del
  • NM_002691.4:c.1601_1612delMANE SELECT
  • NP_001243778.1:p.Glu534_Arg537del
  • NP_001295561.1:p.Glu534_Arg537del
  • NP_002682.2:p.Glu534_Arg537del
  • LRG_785t1:c.1601_1612del
  • LRG_785t2:c.1601_1612del
  • LRG_785:g.27767_27778del
  • LRG_785p1:p.Glu534_Arg537del
  • LRG_785p2:p.Glu534_Arg537del
  • NC_000019.9:g.50910346_50910357del
  • NM_002691.2:c.1601_1612del12
  • NR_046402.2:n.1646_1657del
Molecular consequence:
  • NM_001256849.1:c.1601_1612del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001308632.1:c.1601_1612del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_002691.4:c.1601_1612del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NR_046402.2:n.1646_1657del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002707874Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 12, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002707874.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1601_1612del12 variant (also known as p.E534_R537del) is located in coding exon 12 of the POLD1 gene. This variant results from a deletion of 12 nucleotides at positions 1601 to 1612. This results in an in-frame deletion of four amino acids at codons 534 to 537. These amino acid positions are well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024