NM_002691.4(POLD1):c.885_887del (p.Val296del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 1, 2022
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:: RCV002305490.2

Allele description [Variation Report for NM_002691.4(POLD1):c.885_887del (p.Val296del)]

NM_002691.4(POLD1):c.885_887del (p.Val296del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

19q13.33

Genomic location:

Preferred name:

NM_002691.4(POLD1):c.885_887del (p.Val296del)

HGVS:

NC_000019.10:g.50402656_50402658del
NC_000019.9:g.50905911_50905913del
NG_033800.1:g.23334_23336del
NM_001256849.1:c.885_887del
NM_001308632.1:c.885_887del
NM_002691.4:c.885_887delMANE SELECT
NP_001243778.1:p.Val296del
NP_001295561.1:p.Val296del
NP_002682.2:p.Val296del
LRG_785t1:c.885_887del
LRG_785t2:c.885_887del
LRG_785:g.23334_23336del
LRG_785p1:p.Val296del
LRG_785p2:p.Val296del
NC_000019.9:g.50905911_50905913del
NC_000019.9:g.50905911_50905913delGTG
NC_000019.9:g.50905913_50905915del
NM_002691.3:c.885_887del
NM_002691.3:c.885_887delGGT
NR_046402.2:n.930_932del

Protein change:

V296del

Links:

dbSNP: rs1060501809

NCBI 1000 Genomes Browser:

rs1060501809

Molecular consequence:

NM_001256849.1:c.885_887del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001308632.1:c.885_887del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_002691.4:c.885_887del - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_046402.2:n.930_932del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV002599606	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (May 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002599606

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(May 1, 2022)

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, SCV002599606.2

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge

#	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: Sep 29, 2024

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