NM_002691.4(POLD1):c.2612_2623del (p.Leu871_Asn874del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 21, 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:: RCV003236802.1

Allele description [Variation Report for NM_002691.4(POLD1):c.2612_2623del (p.Leu871_Asn874del)]

NM_002691.4(POLD1):c.2612_2623del (p.Leu871_Asn874del)

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.2612_2623del (p.Leu871_Asn874del)

HGVS:

NC_000019.10:g.50415485_50415496del
NG_033800.1:g.36163_36174del
NM_001256849.1:c.2612_2623del
NM_001308632.1:c.2690_2701del
NM_002691.3:c.2612_2623del
NM_002691.4:c.2612_2623delMANE SELECT
NP_001243778.1:p.Leu871_Asn874del
NP_001295561.1:p.Leu897_Asn900del
NP_002682.2:p.Leu871_Asn874del
LRG_785t1:c.2612_2623del
LRG_785t2:c.2690_2701del
LRG_785:g.36163_36174del
LRG_785p1:p.Leu871_Asn874del
LRG_785p2:p.Leu897_Asn900del
NC_000019.9:g.50918739_50918750del
NC_000019.9:g.50918742_50918753del
NM_002691.2:c.2612_2623del12
NM_002691.3:c.2612_2623delTGCTGTGCAACC
NR_046402.2:n.2657_2668del

Links:

dbSNP: rs1064792943

NCBI 1000 Genomes Browser:

rs1064792943

Molecular consequence:

NM_001256849.1:c.2612_2623del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001308632.1:c.2690_2701del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_002691.4:c.2612_2623del - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_046402.2:n.2657_2668del - 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
SCV003935768	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 21, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003935768

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 21, 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, SCV003935768.1

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

Description

In-frame deletion of 4 amino acids in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter protein structure/function; 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: Feb 28, 2024

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Relating variation to medicine