NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Apr 17, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
6 submissions [Details]
Record status:
current
Accession:
RCV000513885.9

Allele description [Variation Report for NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)]

NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)

Gene:
PCDH15:protocadherin related 15 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q21.1
Genomic location:
Preferred name:
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)
HGVS:
  • NC_000010.11:g.54022983A>G
  • NG_009191.3:g.1611200T>C
  • NM_001142763.2:c.2450T>C
  • NM_001142764.2:c.2435T>C
  • NM_001142765.2:c.2222T>C
  • NM_001142766.2:c.2435T>C
  • NM_001142767.2:c.2324T>C
  • NM_001142768.2:c.2369T>C
  • NM_001142769.3:c.2471T>C
  • NM_001142770.3:c.2435T>C
  • NM_001142771.2:c.2450T>C
  • NM_001142772.2:c.2435T>C
  • NM_001142773.2:c.2369T>C
  • NM_001354404.2:c.2369T>C
  • NM_001354411.2:c.2456T>C
  • NM_001354420.2:c.2435T>C
  • NM_001354429.2:c.2435T>C
  • NM_001354430.2:c.2435T>C
  • NM_001384140.1:c.2435T>CMANE SELECT
  • NM_033056.4:c.2435T>C
  • NP_001136235.1:p.Ile817Thr
  • NP_001136236.1:p.Ile812Thr
  • NP_001136237.1:p.Ile741Thr
  • NP_001136238.1:p.Ile812Thr
  • NP_001136239.1:p.Ile775Thr
  • NP_001136240.1:p.Ile790Thr
  • NP_001136241.1:p.Ile824Thr
  • NP_001136242.1:p.Ile812Thr
  • NP_001136243.1:p.Ile817Thr
  • NP_001136244.1:p.Ile812Thr
  • NP_001136245.1:p.Ile790Thr
  • NP_001341333.1:p.Ile790Thr
  • NP_001341340.1:p.Ile819Thr
  • NP_001341349.1:p.Ile812Thr
  • NP_001341358.1:p.Ile812Thr
  • NP_001341359.1:p.Ile812Thr
  • NP_001371069.1:p.Ile812Thr
  • NP_149045.3:p.Ile812Thr
  • NC_000010.10:g.55782743A>G
  • NM_033056.3:c.2435T>C
Protein change:
I741T
Links:
dbSNP: rs61731363
NCBI 1000 Genomes Browser:
rs61731363
Molecular consequence:
  • NM_001142763.2:c.2450T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142764.2:c.2435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142765.2:c.2222T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142766.2:c.2435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142767.2:c.2324T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142768.2:c.2369T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142769.3:c.2471T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142770.3:c.2435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142771.2:c.2450T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142772.2:c.2435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142773.2:c.2369T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354404.2:c.2369T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354411.2:c.2456T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354420.2:c.2435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354429.2:c.2435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354430.2:c.2435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384140.1:c.2435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033056.4:c.2435T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000610806Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicscriteria provided, single submitter
Likely benign
(Apr 11, 2017)
germlineclinical testing

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

SCV000885888ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Benign
(Aug 14, 2017)
germlineclinical testing

Citation Link,

SCV001109075Invitaecriteria provided, single submitter
Benign
(Dec 5, 2020)
germlineclinical testing

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

SCV001803026GeneDxcriteria provided, single submitter
Likely benign
(Apr 17, 2021)
germlineclinical testing

Citation Link,

SCV001978985Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

SCV001979962Clinical 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 providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

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

Details of each submission

From Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics, SCV000610806.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.001386not providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000885888.1

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

From Invitae, SCV001109075.3

#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 GeneDx, SCV001803026.1

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

Description

This variant is associated with the following publications: (PMID: 27766948)

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

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001978985.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001979962.1

#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

Support Center