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NM_002691.4(POLD1):c.463+8_463+9delinsTT AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 25, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000664286.1

Allele description [Variation Report for NM_002691.4(POLD1):c.463+8_463+9delinsTT]

NM_002691.4(POLD1):c.463+8_463+9delinsTT

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.463+8_463+9delinsTT
HGVS:
  • NC_000019.10:g.50401932_50401933delinsTT
  • NG_033800.1:g.22610_22611delinsTT
  • NM_001256849.1:c.463+8_463+9delinsTT
  • NM_001308632.1:c.463+8_463+9delinsTT
  • NM_002691.4:c.463+8_463+9delinsTTMANE SELECT
  • LRG_785t1:c.463+8_463+9delinsTT
  • LRG_785t2:c.463+8_463+9delinsTT
  • LRG_785:g.22610_22611delinsTT
  • NC_000019.9:g.50905189_50905190delinsTT
  • NM_002691.2:c.463+8_463+9delinsTT
  • NM_002691.3:c.463+8_463+9delinsTT
Links:
dbSNP: rs796285537
NCBI 1000 Genomes Browser:
rs796285537
Molecular consequence:
  • NM_001256849.1:c.463+8_463+9delinsTT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001308632.1:c.463+8_463+9delinsTT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002691.4:c.463+8_463+9delinsTT - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000788149True Health Diagnostics
no assertion criteria provided
Likely benign
(Oct 25, 2017) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From True Health Diagnostics, SCV000788149.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024