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NM_002691.4(POLD1):c.399G>A (p.Glu133=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 5, 2018
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:
RCV000607832.1

Allele description [Variation Report for NM_002691.4(POLD1):c.399G>A (p.Glu133=)]

NM_002691.4(POLD1):c.399G>A (p.Glu133=)

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.399G>A (p.Glu133=)
HGVS:
  • NC_000019.10:g.50401860G>A
  • NG_033800.1:g.22538G>A
  • NM_001256849.1:c.399G>A
  • NM_001308632.1:c.399G>A
  • NM_002691.4:c.399G>AMANE SELECT
  • NP_001243778.1:p.Glu133=
  • NP_001295561.1:p.Glu133=
  • NP_002682.2:p.Glu133=
  • LRG_785t1:c.399G>A
  • LRG_785t2:c.399G>A
  • LRG_785:g.22538G>A
  • LRG_785p1:p.Glu133=
  • LRG_785p2:p.Glu133=
  • NC_000019.9:g.50905117G>A
  • NM_002691.2:c.399G>A
  • NM_002691.3:c.399G>A
  • NR_046402.2:n.444G>A
Links:
dbSNP: rs757940686
NCBI 1000 Genomes Browser:
rs757940686
Molecular consequence:
  • NR_046402.2:n.444G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001256849.1:c.399G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001308632.1:c.399G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002691.4:c.399G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000726480GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Jan 5, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000726480.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 29, 2024