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NM_002691.4(POLD1):c.962del (p.Gly321fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 10, 2018
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:
RCV002386219.2

Allele description [Variation Report for NM_002691.4(POLD1):c.962del (p.Gly321fs)]

NM_002691.4(POLD1):c.962del (p.Gly321fs)

Gene:
POLD1:DNA polymerase delta 1, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_002691.4(POLD1):c.962del (p.Gly321fs)
HGVS:
  • NC_000019.10:g.50402733del
  • NG_033800.1:g.23411del
  • NM_001256849.1:c.962del
  • NM_001308632.1:c.962del
  • NM_002691.4:c.962delMANE SELECT
  • NP_001243778.1:p.Gly321fs
  • NP_001295561.1:p.Gly321fs
  • NP_002682.2:p.Gly321fs
  • LRG_785t1:c.962del
  • LRG_785t2:c.962del
  • LRG_785:g.23411del
  • LRG_785p1:p.Gly321fs
  • LRG_785p2:p.Gly321fs
  • NC_000019.9:g.50905989del
  • NC_000019.9:g.50905990del
  • NM_002691.2:c.962delG
  • NM_002691.3:c.962delG
  • NR_046402.2:n.1007del
Protein change:
G321fs
Links:
dbSNP: rs1568621530
NCBI 1000 Genomes Browser:
rs1568621530
Molecular consequence:
  • NM_001256849.1:c.962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001308632.1:c.962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002691.4:c.962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_046402.2:n.1007del - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002693832Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 10, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002693832.2

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

Description

The c.962delG variant, located in coding exon 7 of the POLD1 gene, results from a deletion of one nucleotide at nucleotide position 962, causing a translational frameshift with a predicted alternate stop codon (p.G321Afs*72). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function via haploinsufficiency in 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: Sep 29, 2024