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NM_002691.4(POLD1):c.371T>C (p.Val124Ala) 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:
RCV001778795.3

Allele description [Variation Report for NM_002691.4(POLD1):c.371T>C (p.Val124Ala)]

NM_002691.4(POLD1):c.371T>C (p.Val124Ala)

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.371T>C (p.Val124Ala)
HGVS:
  • NC_000019.10:g.50401832T>C
  • NG_033800.1:g.22510T>C
  • NM_001256849.1:c.371T>C
  • NM_001308632.1:c.371T>C
  • NM_002691.4:c.371T>CMANE SELECT
  • NP_001243778.1:p.Val124Ala
  • NP_001295561.1:p.Val124Ala
  • NP_002682.2:p.Val124Ala
  • LRG_785t1:c.371T>C
  • LRG_785t2:c.371T>C
  • LRG_785:g.22510T>C
  • LRG_785p1:p.Val124Ala
  • LRG_785p2:p.Val124Ala
  • NC_000019.9:g.50905089T>C
  • NM_002691.2:c.371T>C
  • NM_002691.3:c.371T>C
  • NR_046402.2:n.416T>C
Protein change:
V124A
Links:
dbSNP: rs199993010
NCBI 1000 Genomes Browser:
rs199993010
Molecular consequence:
  • NM_001256849.1:c.371T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001308632.1:c.371T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002691.4:c.371T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046402.2:n.416T>C - 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
SCV002014993Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Likely benign
(Oct 20, 2021)
germlineclinical testing

Citation Link,

SCV004026981Center 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

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002014993.1

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

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV004026981.1

#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