NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) AND not specified

Clinical significance:Likely benign (Last evaluated: Aug 23, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001195202.1

Allele description [Variation Report for NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup)]

NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup)

Gene:
PCDH15:protocadherin related 15 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
10q21.1
Genomic location:
Preferred name:
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup)
HGVS:
  • NC_000010.11:g.53827437_53827438insGGCGGC
  • NC_000010.11:g.53827440CGG[7]
  • NG_009191.3:g.1806731GCC[7]
  • NM_001142763.2:c.4323GCC[7]
  • NM_001142764.2:c.4308GCC[7]
  • NM_001142765.2:c.4095GCC[7]
  • NM_001142766.2:c.4299GCC[7]
  • NM_001142767.2:c.4188GCC[7]
  • NM_001142768.2:c.4242GCC[7]
  • NM_001142769.3:c.4344GCC[7]
  • NM_001142770.3:c.4308GCC[7]
  • NM_001142771.2:c.4323GCC[7]
  • NM_001142772.2:c.4308GCC[7]
  • NM_001142773.2:c.4233GCC[7]
  • NM_001354404.2:c.4242GCC[7]
  • NM_001354411.2:c.4329GCC[7]
  • NM_001354420.2:c.4308GCC[7]
  • NM_001354429.2:c.4308GCC[7]
  • NM_001384140.1:c.4308GCC[7]MANE SELECT
  • NM_033056.4:c.4308GCC[7]
  • NP_001136235.1:p.Pro1447_Pro1448dup
  • NP_001136236.1:p.Pro1442_Pro1443dup
  • NP_001136237.1:p.Pro1371_Pro1372dup
  • NP_001136238.1:p.Pro1439_Pro1440dup
  • NP_001136239.1:p.Pro1402_Pro1403dup
  • NP_001136240.1:p.Pro1420_Pro1421dup
  • NP_001136241.1:p.Pro1454_Pro1455dup
  • NP_001136242.1:p.Pro1442_Pro1443dup
  • NP_001136243.1:p.Pro1447_Pro1448dup
  • NP_001136244.1:p.Pro1442_Pro1443dup
  • NP_001136245.1:p.Pro1417_Pro1418dup
  • NP_001341333.1:p.Pro1420_Pro1421dup
  • NP_001341340.1:p.Pro1449_Pro1450dup
  • NP_001341349.1:p.Pro1442_Pro1443dup
  • NP_001341358.1:p.Pro1442_Pro1443dup
  • NP_001371069.1:p.Pro1442_Pro1443dup
  • NP_149045.3:p.Pro1442_Pro1443dup
  • NC_000010.10:g.55587197_55587198insGGCGGC
  • NC_000010.10:g.55587200CGG[7]
  • NM_033056.3:c.4317_4322dup
Links:
dbSNP: rs559130985
NCBI 1000 Genomes Browser:
rs559130985
Molecular consequence:
  • NM_001142763.2:c.4323GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001142764.2:c.4308GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001142765.2:c.4095GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001142766.2:c.4299GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001142767.2:c.4188GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001142768.2:c.4242GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001142769.3:c.4344GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001142770.3:c.4308GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001142771.2:c.4323GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001142772.2:c.4308GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001142773.2:c.4233GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354404.2:c.4242GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354411.2:c.4329GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354420.2:c.4308GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354429.2:c.4308GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001384140.1:c.4308GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_033056.4:c.4308GCC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
Observations:
1

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
SCV001365508Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Aug 23, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown11not 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, SCV001365508.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

p.Pro1443_Gly1444insProPro in exon 32 of PCDH15: This variant is not expected to have clinical significance because it has been identified in 0.74% (63/8554) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs559130985).

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

Last Updated: Sep 29, 2021

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