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NM_002691.4(POLD1):c.759-14_759-13delinsAT AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 28, 2023
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:
RCV001712449.9

Allele description [Variation Report for NM_002691.4(POLD1):c.759-14_759-13delinsAT]

NM_002691.4(POLD1):c.759-14_759-13delinsAT

Gene:
POLD1:DNA polymerase delta 1, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_002691.4(POLD1):c.759-14_759-13delinsAT
HGVS:
  • NC_000019.10:g.50402440_50402441delinsAT
  • NG_033800.1:g.23118_23119delinsAT
  • NM_001256849.1:c.759-14_759-13delinsAT
  • NM_001308632.1:c.759-14_759-13delinsAT
  • NM_002691.4:c.759-14_759-13delinsATMANE SELECT
  • LRG_785t1:c.759-14_759-13delinsAT
  • LRG_785t2:c.759-14_759-13delinsAT
  • LRG_785:g.23118_23119delinsAT
  • NC_000019.9:g.50905697_50905698delinsAT
  • NM_002691.3:c.759-14_759-13delCCinsAT
Links:
dbSNP: rs1064795639
NCBI 1000 Genomes Browser:
rs1064795639
Molecular consequence:
  • NM_001256849.1:c.759-14_759-13delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001308632.1:c.759-14_759-13delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002691.4:c.759-14_759-13delinsAT - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000571630GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Aug 28, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000571630.7

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

Description

See Variant Classification Assertion Criteria.

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

Last Updated: Nov 10, 2024