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NM_002691.4(POLD1):c.914dup (p.Arg306fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 4, 2020
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:
RCV002378796.2

Allele description [Variation Report for NM_002691.4(POLD1):c.914dup (p.Arg306fs)]

NM_002691.4(POLD1):c.914dup (p.Arg306fs)

Gene:
POLD1:DNA polymerase delta 1, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_002691.4(POLD1):c.914dup (p.Arg306fs)
HGVS:
  • NC_000019.10:g.50402685dup
  • NG_033800.1:g.23363dup
  • NM_001256849.1:c.914dup
  • NM_001308632.1:c.914dup
  • NM_002691.4:c.914dupMANE SELECT
  • NP_001243778.1:p.Arg306fs
  • NP_001295561.1:p.Arg306fs
  • NP_002682.2:p.Arg306fs
  • LRG_785t1:c.914dup
  • LRG_785t2:c.914dup
  • LRG_785:g.23363dup
  • LRG_785p1:p.Arg306fs
  • LRG_785p2:p.Arg306fs
  • NC_000019.9:g.50905942dup
  • NM_002691.2:c.914dupA
  • NR_046402.2:n.959dup
Protein change:
R306fs
Molecular consequence:
  • NM_001256849.1:c.914dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001308632.1:c.914dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002691.4:c.914dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_046402.2:n.959dup - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002686114Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 4, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002686114.2

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

Description

The c.914dupA variant, located in coding exon 7 of the POLD1 gene, results from a duplication of A at nucleotide position 914, causing a translational frameshift with a predicted alternate stop codon (p.R306Afs*23). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of POLD1 has not been clearly established as a mechanism of disease. 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