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NM_002691.4(POLD1):c.208G>A (p.Val70Ile) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 18, 2019
Review status:
criteria provided, conflicting classifications
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:
RCV000657092.12

Allele description [Variation Report for NM_002691.4(POLD1):c.208G>A (p.Val70Ile)]

NM_002691.4(POLD1):c.208G>A (p.Val70Ile)

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.208G>A (p.Val70Ile)
HGVS:
  • NC_000019.10:g.50399376G>A
  • NG_033800.1:g.20054G>A
  • NM_001256849.1:c.208G>A
  • NM_001308632.1:c.208G>A
  • NM_002691.4:c.208G>AMANE SELECT
  • NP_001243778.1:p.Val70Ile
  • NP_001295561.1:p.Val70Ile
  • NP_002682.2:p.Val70Ile
  • LRG_785t1:c.208G>A
  • LRG_785t2:c.208G>A
  • LRG_785:g.20054G>A
  • LRG_785p1:p.Val70Ile
  • LRG_785p2:p.Val70Ile
  • NC_000019.9:g.50902633G>A
  • NM_002691.3:c.208G>A
  • NR_046402.2:n.253G>A
Protein change:
V70I
Links:
dbSNP: rs147911699
NCBI 1000 Genomes Browser:
rs147911699
Molecular consequence:
  • NM_001256849.1:c.208G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001308632.1:c.208G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002691.4:c.208G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046402.2:n.253G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000568934GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Dec 18, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000568934.5

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Jul 15, 2024