NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) AND not specified

Clinical significance:Benign (Last evaluated: Jan 25, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000037099.5

Allele description [Variation Report for NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu)]

NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu)

Gene:
PDZD7:PDZ domain containing 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q24.31
Genomic location:
Preferred name:
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu)
HGVS:
  • NC_000010.11:g.101010745G>A
  • NG_028030.1:g.25413C>T
  • NM_001195263.2:c.2144C>TMANE SELECT
  • NP_001182192.1:p.Pro715Leu
  • NC_000010.10:g.102770502G>A
  • NM_001195263.1:c.2144C>T
  • c.2144C>T
Protein change:
P715L
Links:
dbSNP: rs143414291
NCBI 1000 Genomes Browser:
rs143414291
Molecular consequence:
  • NM_001195263.2:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
12

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000060756Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Jan 25, 2018)
germlineclinical testing

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

SCV000226253EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Jan 23, 2015)
germlineclinical testing

Citation Link,

SCV001923342Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1212not providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000060756.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided12not providednot providedclinical testing PubMed (1)

Description

p.Pro715Leu in exon 15 of PDZD7: This variant is not expected to have clinical s ignificance because it has been identified in 4.3% (10/230) of Hispanic chromoso mes from the 1000 Genomes project (http://www.ncbi.nlm.nih.gov/variation/tools/1 000genomes; rs143414291).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided12not provided12not provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000226253.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001923342.1

#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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