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

Clinical significance:Benign/Likely benign (Last evaluated: Dec 4, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000954274.6

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]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001100897Invitaecriteria provided, single submitter
Benign
(Dec 4, 2020)
germlineclinical testing

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

SCV001144893Athena Diagnostics Inccriteria provided, single submitter
Likely benign
(Aug 31, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV001908869GeneDxcriteria provided, single submitter
Benign
(Nov 20, 2019)
germlineclinical testing

Citation Link,

SCV001972498Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Experience of targeted Usher exome sequencing as a clinical test.

Besnard T, García-García G, Baux D, Vaché C, Faugère V, Larrieu L, Léonard S, Millan JM, Malcolm S, Claustres M, Roux AF.

Mol Genet Genomic Med. 2014 Jan;2(1):30-43. doi: 10.1002/mgg3.25. Epub 2013 Jul 10.

PubMed [citation]
PMID:
24498627
PMCID:
PMC3907913
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001100897.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Athena Diagnostics Inc, SCV001144893.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001908869.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 24498627)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001972498.1

#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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