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

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Aug 15, 2023
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:
RCV000481096.7

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:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000601902Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)
Likely benign
(Dec 2, 2016)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002761041Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Aug 15, 2023)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000601902.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002761041.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024