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NM_002691.4(POLD1):c.463+8G>T AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
May 18, 2016
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:
RCV000587348.1

Allele description [Variation Report for NM_002691.4(POLD1):c.463+8G>T]

NM_002691.4(POLD1):c.463+8G>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.463+8G>T
HGVS:
  • NC_000019.10:g.50401932G>T
  • NG_033800.1:g.22610G>T
  • NM_001256849.1:c.463+8G>T
  • NM_001308632.1:c.463+8G>T
  • NM_002691.4:c.463+8G>TMANE SELECT
  • LRG_785t1:c.463+8G>T
  • LRG_785t2:c.463+8G>T
  • LRG_785:g.22610G>T
  • NC_000019.9:g.50905189G>T
  • NM_002691.2:c.463+8G>T
  • NM_002691.3:c.463+8G>T
  • NM_002691.4:c.463+8G>T
Links:
dbSNP: rs1726802
NCBI 1000 Genomes Browser:
rs1726802
Molecular consequence:
  • NM_001308632.1:c.463+8G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002691.4:c.463+8G>T - 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
SCV000698011Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Benign
(May 18, 2016) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698011.1

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

Description

Variant summary: The POLD1 c.463+8G>T variant involves the alteration of a non-conserved intronic nucleotide with 5/5 splice prediction tools predicting no significant impact on splicing, although these predictions have yet to be functionally assessed. This variant was observed in the large, broad control population, ExAC, with an allele frequency of 13864/121128 (1142 homozygotes, 1/8, frequency: 0.1144574), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic POLD1 variant of 1/70422 (0.0000142), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Benign.

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

Last Updated: Jun 23, 2024