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NM_002691.4(POLD1):c.631C>T (p.Arg211Cys) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 18, 2015
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:
RCV002365632.2

Allele description [Variation Report for NM_002691.4(POLD1):c.631C>T (p.Arg211Cys)]

NM_002691.4(POLD1):c.631C>T (p.Arg211Cys)

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.631C>T (p.Arg211Cys)
HGVS:
  • NC_000019.10:g.50402246C>T
  • NG_033800.1:g.22924C>T
  • NM_001256849.1:c.631C>T
  • NM_001308632.1:c.631C>T
  • NM_002691.4:c.631C>TMANE SELECT
  • NP_001243778.1:p.Arg211Cys
  • NP_001295561.1:p.Arg211Cys
  • NP_002682.2:p.Arg211Cys
  • LRG_785t1:c.631C>T
  • LRG_785t2:c.631C>T
  • LRG_785:g.22924C>T
  • LRG_785p1:p.Arg211Cys
  • LRG_785p2:p.Arg211Cys
  • NC_000019.9:g.50905503C>T
  • NM_002691.2:c.631C>T
  • NM_002691.3:c.631C>T
  • NR_046402.2:n.676C>T
Protein change:
R211C
Links:
dbSNP: rs200679966
NCBI 1000 Genomes Browser:
rs200679966
Molecular consequence:
  • NM_001256849.1:c.631C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001308632.1:c.631C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002691.4:c.631C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046402.2:n.676C>T - 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
SCV002661385Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 18, 2015) 		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, SCV002661385.2

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

Description

The p.R211C variant (also known as c.631C>T), located in coding exon 5 of the POLD1 gene, results from a C to T substitution at nucleotide position 631. The arginine at codon 211 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant was previously reported in the SNPDatabase as rs200679966, but was absent from population-based cohorts in the NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project databases. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be benign and deleterious by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of p.R211C remains unclear.

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

Last Updated: Sep 29, 2024