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NM_002691.4(POLD1):c.423C>T (p.Ile141=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 3, 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:
RCV002328180.2

Allele description [Variation Report for NM_002691.4(POLD1):c.423C>T (p.Ile141=)]

NM_002691.4(POLD1):c.423C>T (p.Ile141=)

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.423C>T (p.Ile141=)
HGVS:
  • NC_000019.10:g.50401884C>T
  • NG_033800.1:g.22562C>T
  • NM_001256849.1:c.423C>T
  • NM_001308632.1:c.423C>T
  • NM_002691.4:c.423C>TMANE SELECT
  • NP_001243778.1:p.Ile141=
  • NP_001295561.1:p.Ile141=
  • NP_002682.2:p.Ile141=
  • LRG_785t1:c.423C>T
  • LRG_785t2:c.423C>T
  • LRG_785:g.22562C>T
  • LRG_785p1:p.Ile141=
  • LRG_785p2:p.Ile141=
  • NC_000019.9:g.50905141C>T
  • NM_002691.2:c.423C>T
  • NR_046402.2:n.468C>T
Molecular consequence:
  • NR_046402.2:n.468C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001256849.1:c.423C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001308632.1:c.423C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002691.4:c.423C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002632843Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 3, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002632843.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 1, 2024