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NM_002691.4(POLD1):c.934G>A (p.Val312Met) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV003483598.1

Allele description [Variation Report for NM_002691.4(POLD1):c.934G>A (p.Val312Met)]

NM_002691.4(POLD1):c.934G>A (p.Val312Met)

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.934G>A (p.Val312Met)
HGVS:
  • NC_000019.10:g.50402705G>A
  • NG_033800.1:g.23383G>A
  • NM_001256849.1:c.934G>A
  • NM_001308632.1:c.934G>A
  • NM_002691.4:c.934G>AMANE SELECT
  • NP_001243778.1:p.Val312Met
  • NP_001295561.1:p.Val312Met
  • NP_002682.2:p.Val312Met
  • LRG_785t1:c.934G>A
  • LRG_785t2:c.934G>A
  • LRG_785:g.23383G>A
  • LRG_785p1:p.Val312Met
  • LRG_785p2:p.Val312Met
  • NC_000019.9:g.50905962G>A
  • NM_002691.2:c.934G>A
  • NM_002691.3:c.934G>A
  • NM_002691.4:c.934G>A
  • NR_046402.2:n.979G>A
Protein change:
V312M
Links:
dbSNP: rs371612922
NCBI 1000 Genomes Browser:
rs371612922
Molecular consequence:
  • NM_001256849.1:c.934G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001308632.1:c.934G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002691.4:c.934G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046402.2:n.979G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Familial colorectal cancer
Identifiers:
MONDO: MONDO:0023113; MedGen: CN280943
Name:
Mandibular hypoplasia-deafness-progeroid syndrome
Synonyms:
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
Identifiers:
MONDO: MONDO:0014157; MedGen: C3715192; Orphanet: 363649; OMIM: 615381

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004228733GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV004228733.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 07-28-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024