NM_002691.4(POLD1):c.463+8G>T AND not specified

Germline classification:: Benign (3 submissions)
Last evaluated:: Jan 24, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000434530.7

Allele description [Variation Report for NM_002691.4(POLD1):c.463+8G>T]

NM_002691.4(POLD1):c.463+8G>T

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.463+8G>T

HGVS:

NC_000019.10:g.50401932G>T
NG_033800.1:g.22610G>T
NM_001256849.1:c.463+8G>T
NM_001308632.1:c.463+8G>T
NM_002691.4:c.463+8G>TMANE SELECT
LRG_785t1:c.463+8G>T
LRG_785t2:c.463+8G>T
LRG_785:g.22610G>T
NC_000019.9:g.50905189G>T
NM_002691.2:c.463+8G>T
NM_002691.3:c.463+8G>T
NM_002691.4:c.463+8G>T

Links:

dbSNP: rs1726802

NCBI 1000 Genomes Browser:

rs1726802

Molecular consequence:

NM_001308632.1:c.463+8G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_002691.4:c.463+8G>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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DUF1249 domain-containing protein [Reinekea thalattae]
DUF1249 domain-containing protein [Reinekea thalattae]
gi|2226126791|ref|WP_246109381.1|

Protein
Gongylanthus liebmannianus isolate FATOL774 26S large subunit ribosomal RNA gene...
Gongylanthus liebmannianus isolate FATOL774 26S large subunit ribosomal RNA gene, partial sequence
gi|671724712|gb|KF851729.1|

Nucleotide
Cardiovascular Surgical Procedures
Cardiovascular Surgical Procedures
Surgery performed on the heart or blood vessels.<br/>Year introduced: 1998

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000518016	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Nov 6, 2015)	germline	clinical testing	Citation Link,
SCV000806543	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Nov 2, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004232814	Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jan 24, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000518016

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Nov 6, 2015)

germline

clinical testing

Citation Link,

SCV000806543

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Nov 2, 2016)

germline

clinical testing

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

SCV004232814

Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Jan 24, 2024)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	21	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 GeneDx, SCV000518016.4

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

#	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

From PreventionGenetics, part of Exact Sciences, SCV000806543.1

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

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

From Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan, SCV004232814.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	21	not provided	not provided	clinical testing	PubMed (1)

Description

This variant is classified as Benign based on local population frequency. This variant was detected in 22% of patients studied by a panel of primary immunodeficiencies. Number of patients: 21. Only high quality variants are reported.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		21	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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