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NM_002691.4(POLD1):c.1552C>A (p.Leu518Met) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 24, 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:
RCV000566097.4

Allele description [Variation Report for NM_002691.4(POLD1):c.1552C>A (p.Leu518Met)]

NM_002691.4(POLD1):c.1552C>A (p.Leu518Met)

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.1552C>A (p.Leu518Met)
HGVS:
  • NC_000019.10:g.50407040C>A
  • NG_033800.1:g.27718C>A
  • NM_001256849.1:c.1552C>A
  • NM_001308632.1:c.1552C>A
  • NM_002691.4:c.1552C>AMANE SELECT
  • NP_001243778.1:p.Leu518Met
  • NP_001295561.1:p.Leu518Met
  • NP_002682.2:p.Leu518Met
  • LRG_785t1:c.1552C>A
  • LRG_785t2:c.1552C>A
  • LRG_785:g.27718C>A
  • LRG_785p1:p.Leu518Met
  • LRG_785p2:p.Leu518Met
  • NC_000019.9:g.50910297C>A
  • NM_002691.2:c.1552C>A
  • NM_002691.3:c.1552C>A
  • NR_046402.2:n.1597C>A
Protein change:
L518M
Links:
dbSNP: rs149043082
NCBI 1000 Genomes Browser:
rs149043082
Molecular consequence:
  • NM_001256849.1:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001308632.1:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002691.4:c.1552C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046402.2:n.1597C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000671009Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 24, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000671009.6

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

Description

The p.L518M variant (also known as c.1552C>A), located in coding exon 12 of the POLD1 gene, results from a C to A substitution at nucleotide position 1552. The leucine at codon 518 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024