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NM_002691.4(POLD1):c.947A>G (p.Asp316Gly) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 25, 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:
RCV000571390.3

Allele description [Variation Report for NM_002691.4(POLD1):c.947A>G (p.Asp316Gly)]

NM_002691.4(POLD1):c.947A>G (p.Asp316Gly)

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.947A>G (p.Asp316Gly)
HGVS:
  • NC_000019.10:g.50402718A>G
  • NG_033800.1:g.23396A>G
  • NM_001256849.1:c.947A>G
  • NM_001308632.1:c.947A>G
  • NM_002691.4:c.947A>GMANE SELECT
  • NP_001243778.1:p.Asp316Gly
  • NP_001295561.1:p.Asp316Gly
  • NP_002682.2:p.Asp316Gly
  • LRG_785t1:c.947A>G
  • LRG_785t2:c.947A>G
  • LRG_785:g.23396A>G
  • LRG_785p1:p.Asp316Gly
  • LRG_785p2:p.Asp316Gly
  • NC_000019.9:g.50905975A>G
  • NM_002691.2:c.947A>G
  • NR_046402.2:n.992A>G
Protein change:
D316G
Links:
dbSNP: rs1555790301
NCBI 1000 Genomes Browser:
rs1555790301
Molecular consequence:
  • NM_001256849.1:c.947A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001308632.1:c.947A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002691.4:c.947A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046402.2:n.992A>G - 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
SCV000671136Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 25, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.

Bellido F, Pineda M, Aiza G, Valdés-Mas R, Navarro M, Puente DA, Pons T, González S, Iglesias S, Darder E, Piñol V, Soto JL, Valencia A, Blanco I, Urioste M, Brunet J, Lázaro C, Capellá G, Puente XS, Valle L.

Genet Med. 2016 Apr;18(4):325-32. doi: 10.1038/gim.2015.75. Epub 2015 Jul 2. Review.

PubMed [citation]
PMID:
26133394
PMCID:
PMC4823640

Details of each submission

From Ambry Genetics, SCV000671136.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.D316G variant (also known as c.947A>G), located in coding exon 7 of the POLD1 gene, results from an A to G substitution at nucleotide position 947. The aspartic acid at codon 316 is replaced by glycine, an amino acid with similar properties. This alteration has been identified in a Lynch syndrome-like family and considered pathogenic by authors (Bellido F et al, Genet. Med. 2016 Apr; 18(4):325-32). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. 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: May 1, 2024