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NM_002691.4(POLD1):c.370_382dup (p.Phe128fs) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 26, 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:
RCV003108143.3

Allele description [Variation Report for NM_002691.4(POLD1):c.370_382dup (p.Phe128fs)]

NM_002691.4(POLD1):c.370_382dup (p.Phe128fs)

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.370_382dup (p.Phe128fs)
HGVS:
  • NC_000019.10:g.50401831_50401843dup
  • NG_033800.1:g.22509_22521dup
  • NM_001256849.1:c.370_382dup
  • NM_001308632.1:c.370_382dup
  • NM_002691.3:c.370_382dup
  • NM_002691.4:c.370_382dupMANE SELECT
  • NP_001243778.1:p.Phe128fs
  • NP_001295561.1:p.Phe128fs
  • NP_002682.2:p.Phe128fs
  • LRG_785t1:c.370_382dup
  • LRG_785t2:c.370_382dup
  • LRG_785:g.22509_22521dup
  • LRG_785p1:p.Phe128fs
  • LRG_785p2:p.Phe128fs
  • NC_000019.9:g.50905083_50905084insGCCTGTGCTCCGC
  • NC_000019.9:g.50905088_50905100dup
  • NR_046402.2:n.415_427dup
Protein change:
F128fs
Molecular consequence:
  • NM_001256849.1:c.370_382dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001308632.1:c.370_382dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002691.4:c.370_382dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_046402.2:n.415_427dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003761821GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jul 26, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV003761821.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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

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

Last Updated: Feb 14, 2024