NM_001384140.1(PCDH15):c.734G>A (p.Arg245Gln) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 12, 2013
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000151640.4

Allele description [Variation Report for NM_001384140.1(PCDH15):c.734G>A (p.Arg245Gln)]

NM_001384140.1(PCDH15):c.734G>A (p.Arg245Gln)

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.734G>A (p.Arg245Gln)

HGVS:

NC_000010.11:g.54317413C>T
NG_009191.3:g.1316770G>A
NM_001142763.2:c.749G>A
NM_001142764.2:c.734G>A
NM_001142765.2:c.734G>A
NM_001142766.2:c.734G>A
NM_001142767.2:c.623G>A
NM_001142768.2:c.668G>A
NM_001142769.3:c.749G>A
NM_001142770.3:c.734G>A
NM_001142771.2:c.749G>A
NM_001142772.2:c.734G>A
NM_001142773.2:c.668G>A
NM_001354404.2:c.668G>A
NM_001354411.2:c.734G>A
NM_001354420.2:c.734G>A
NM_001354429.2:c.734G>A
NM_001354430.2:c.734G>A
NM_001384140.1:c.734G>AMANE SELECT
NM_033056.4:c.734G>A
NP_001136235.1:p.Arg250Gln
NP_001136236.1:p.Arg245Gln
NP_001136237.1:p.Arg245Gln
NP_001136238.1:p.Arg245Gln
NP_001136239.1:p.Arg208Gln
NP_001136240.1:p.Arg223Gln
NP_001136241.1:p.Arg250Gln
NP_001136242.1:p.Arg245Gln
NP_001136243.1:p.Arg250Gln
NP_001136244.1:p.Arg245Gln
NP_001136245.1:p.Arg223Gln
NP_001341333.1:p.Arg223Gln
NP_001341340.1:p.Arg245Gln
NP_001341349.1:p.Arg245Gln
NP_001341358.1:p.Arg245Gln
NP_001341359.1:p.Arg245Gln
NP_001371069.1:p.Arg245Gln
NP_149045.3:p.Arg245Gln
NC_000010.10:g.56077173C>T
NM_033056.3:c.734G>A

Protein change:

R208Q

Links:

dbSNP: rs562377533

NCBI 1000 Genomes Browser:

rs562377533

Molecular consequence:

NM_001142763.2:c.749G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142764.2:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142765.2:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142766.2:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142767.2:c.623G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142768.2:c.668G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142769.3:c.749G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142770.3:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142771.2:c.749G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142772.2:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142773.2:c.668G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354404.2:c.668G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354411.2:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354420.2:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354429.2:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354430.2:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384140.1:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033056.4:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000199875	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Jun 12, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000199875

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Jun 12, 2013)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical 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, Mass General Brigham Personalized Medicine, SCV000199875.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

Description

The Arg245Gln variant in PCDH15 has not been reported in individuals with hearin g loss and was not identified in large population studies. Computational analyse s (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SI FT) do not provide strong support for or against an impact to the protein. In s ummary, additional studies are needed to fully assess the clinical significance of the Arg245Gln variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine