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NM_002691.4(POLD1):c.623C>T (p.Pro208Leu) 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:
RCV001535618.5

Allele description [Variation Report for NM_002691.4(POLD1):c.623C>T (p.Pro208Leu)]

NM_002691.4(POLD1):c.623C>T (p.Pro208Leu)

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.623C>T (p.Pro208Leu)
HGVS:
  • NC_000019.10:g.50402238C>T
  • NG_033800.1:g.22916C>T
  • NM_001256849.1:c.623C>T
  • NM_001308632.1:c.623C>T
  • NM_002691.4:c.623C>TMANE SELECT
  • NP_001243778.1:p.Pro208Leu
  • NP_001295561.1:p.Pro208Leu
  • NP_002682.2:p.Pro208Leu
  • LRG_785t1:c.623C>T
  • LRG_785t2:c.623C>T
  • LRG_785:g.22916C>T
  • LRG_785p1:p.Pro208Leu
  • LRG_785p2:p.Pro208Leu
  • NC_000019.9:g.50905495C>T
  • NM_002691.3:c.623C>T
  • NR_046402.2:n.668C>T
Protein change:
P208L
Links:
dbSNP: rs774030917
NCBI 1000 Genomes Browser:
rs774030917
Molecular consequence:
  • NM_001256849.1:c.623C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001308632.1:c.623C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002691.4:c.623C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046402.2:n.668C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Colorectal cancer, susceptibility to, 10
Synonyms:
COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q; Colorectal cancer 10
Identifiers:
MONDO: MONDO:0012953; MedGen: C2675481; Orphanet: 220460; OMIM: 612591
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
SCV001749640GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749640.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 12-18-2017 by 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
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024