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NM_002691.4(POLD1):c.840+4C>T AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
May 1, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001766842.18

Allele description [Variation Report for NM_002691.4(POLD1):c.840+4C>T]

NM_002691.4(POLD1):c.840+4C>T

Gene:
POLD1:DNA polymerase delta 1, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_002691.4(POLD1):c.840+4C>T
HGVS:
  • NC_000019.10:g.50402539C>T
  • NG_033800.1:g.23217C>T
  • NM_001256849.1:c.840+4C>T
  • NM_001308632.1:c.840+4C>T
  • NM_002691.4:c.840+4C>TMANE SELECT
  • LRG_785t1:c.840+4C>T
  • LRG_785t2:c.840+4C>T
  • LRG_785:g.23217C>T
  • NC_000019.9:g.50905796C>T
  • NM_002691.2:c.840+4C>T
  • NM_002691.3:c.840+4C>T
Links:
dbSNP: rs780257283
NCBI 1000 Genomes Browser:
rs780257283
Molecular consequence:
  • NM_001256849.1:c.840+4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001308632.1:c.840+4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002691.4:c.840+4C>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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
SCV002000863GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Mar 5, 2020) 		germlineclinical testing

Citation Link,

SCV002543970CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Uncertain significance
(May 1, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV002000863.2

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

Description

Not observed at a significant frequency in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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

From CeGaT Center for Human Genetics Tuebingen, SCV002543970.16

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

POLD1: PM2, PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024