NM_004715.5(CTDP1):c.863+389C>T AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV001092097.4

Allele description [Variation Report for NM_004715.5(CTDP1):c.863+389C>T]

NM_004715.5(CTDP1):c.863+389C>T

Gene:
CTDP1:CTD phosphatase subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q23
Genomic location:
Preferred name:
NM_004715.5(CTDP1):c.863+389C>T
HGVS:
  • NC_000018.10:g.79710825C>T
  • NG_007988.1:g.36025C>T
  • NM_001202504.1:c.506+389C>T
  • NM_001318511.2:c.863+389C>T
  • NM_004715.4(CTDP1):c.863+389C>T
  • NM_004715.5:c.863+389C>TMANE SELECT
  • NM_048368.4:c.863+389C>T
  • LRG_236t1:c.863+389C>T
  • LRG_236:g.36025C>T
  • NC_000018.9:g.77470825C>T
  • NM_004715.3:c.863+389C>T
  • NM_004715.4:c.863+389C>T
Nucleotide change:
IVS6, C-T, +389
Links:
OMIM: 604927.0001; dbSNP: rs113994102
NCBI 1000 Genomes Browser:
rs113994102
Molecular consequence:
  • NM_001202504.1:c.506+389C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318511.2:c.863+389C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004715.5:c.863+389C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_048368.4:c.863+389C>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
4

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001248460CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Jan 1, 2021)
germlineclinical testing

Citation Link,

SCV001979101Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedPathogenicgermlineclinical testing

SCV001979376Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedPathogenicgermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001248460.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not providednot providednot provided

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001979101.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001979376.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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