NM_002691.4(POLD1):c.759-14_759-13delinsAT AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 28, 2023
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:: RCV001712449.9

Allele description [Variation Report for NM_002691.4(POLD1):c.759-14_759-13delinsAT]

NM_002691.4(POLD1):c.759-14_759-13delinsAT

Gene:

POLD1:DNA polymerase delta 1, catalytic subunit [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

19q13.33

Genomic location:

Preferred name:

NM_002691.4(POLD1):c.759-14_759-13delinsAT

HGVS:

NC_000019.10:g.50402440_50402441delinsAT
NG_033800.1:g.23118_23119delinsAT
NM_001256849.1:c.759-14_759-13delinsAT
NM_001308632.1:c.759-14_759-13delinsAT
NM_002691.4:c.759-14_759-13delinsATMANE SELECT
LRG_785t1:c.759-14_759-13delinsAT
LRG_785t2:c.759-14_759-13delinsAT
LRG_785:g.23118_23119delinsAT
NC_000019.9:g.50905697_50905698delinsAT
NM_002691.3:c.759-14_759-13delCCinsAT

Links:

dbSNP: rs1064795639

NCBI 1000 Genomes Browser:

rs1064795639

Molecular consequence:

NM_001256849.1:c.759-14_759-13delinsAT - intron variant - [Sequence Ontology: SO:0001627]
NM_001308632.1:c.759-14_759-13delinsAT - intron variant - [Sequence Ontology: SO:0001627]
NM_002691.4:c.759-14_759-13delinsAT - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000571630	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Aug 28, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000571630

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Aug 28, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000571630.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

See Variant Classification Assertion Criteria.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine