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NM_002691.4(POLD1):c.840+3G>T AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 26, 2019
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:
RCV001017711.3

Allele description [Variation Report for NM_002691.4(POLD1):c.840+3G>T]

NM_002691.4(POLD1):c.840+3G>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+3G>T
HGVS:
  • NC_000019.10:g.50402538G>T
  • NG_033800.1:g.23216G>T
  • NM_001256849.1:c.840+3G>T
  • NM_001308632.1:c.840+3G>T
  • NM_002691.4:c.840+3G>TMANE SELECT
  • LRG_785t1:c.840+3G>T
  • LRG_785t2:c.840+3G>T
  • LRG_785:g.23216G>T
  • NC_000019.9:g.50905795G>T
  • NM_002691.2:c.840+3G>T
  • NM_002691.3:c.840+3G>T
Links:
dbSNP: rs1601202006
NCBI 1000 Genomes Browser:
rs1601202006
Molecular consequence:
  • NM_001256849.1:c.840+3G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001308632.1:c.840+3G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002691.4:c.840+3G>T - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001178834Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 26, 2019) 		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, SCV001178834.4

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

Description

The c.840+3G>T intronic variant results from a G to T substitution 3 nucleotides after coding exon 6 in the POLD1 gene. This nucleotide position is poorly conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by ESEfinder to create a new alternate splice acceptor site, but BDGP does not predict the creation of a non-native acceptor site, nor a deleterious effect on splicing. Using the Human Splicing Finder (HSF) splice site prediction tool, this alteration does not have any significant effect on the native splice acceptor/donor site; however, direct evidence is unavailable (Desmet FO et al. Nucleic Acids Res. 2009 May;37:e67). 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: Sep 29, 2024