NM_018903.4(PCDHA12):c.611A>C (p.Gln204Pro) AND PCDHA12-related condition

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 20, 2024
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV004732226.1

Allele description [Variation Report for NM_018903.4(PCDHA12):c.611A>C (p.Gln204Pro)]

NM_018903.4(PCDHA12):c.611A>C (p.Gln204Pro)

Genes:

PCDHA10:protocadherin alpha 10 [Gene - OMIM - HGNC]
PCDHA11:protocadherin alpha 11 [Gene - OMIM - HGNC]
PCDHA12:protocadherin alpha 12 [Gene - OMIM - HGNC]
PCDHA1:protocadherin alpha 1 [Gene - OMIM - HGNC]
PCDHA2:protocadherin alpha 2 [Gene - OMIM - HGNC]
PCDHA3:protocadherin alpha 3 [Gene - OMIM - HGNC]
PCDHA4:protocadherin alpha 4 [Gene - OMIM - HGNC]
PCDHA5:protocadherin alpha 5 [Gene - OMIM - HGNC]
PCDHA6:protocadherin alpha 6 [Gene - OMIM - HGNC]
PCDHA7:protocadherin alpha 7 [Gene - OMIM - HGNC]
PCDHA8:protocadherin alpha 8 [Gene - OMIM - HGNC]
PCDHA9:protocadherin alpha 9 [Gene - OMIM - HGNC]
PCDHA@:protocadherin alpha cluster, complex locus [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.3

Genomic location:

Preferred name:

NM_018903.4(PCDHA12):c.611A>C (p.Gln204Pro)

HGVS:

NC_000005.10:g.140876083A>C
NG_000016.2:g.141956A>C
NG_050674.1:g.25201A>C
NG_050675.1:g.79886A>C
NG_050677.1:g.86225A>C
NM_018900.4:c.2394+87399A>CMANE SELECT
NM_018901.4:c.2388+17647A>CMANE SELECT
NM_018902.5:c.2391+4589A>CMANE SELECT
NM_018903.4:c.611A>CMANE SELECT
NM_018905.3:c.2388+78731A>CMANE SELECT
NM_018906.3:c.2394+72492A>CMANE SELECT
NM_018907.4:c.2385+66511A>CMANE SELECT
NM_018908.3:c.2352+51956A>CMANE SELECT
NM_018909.4:c.2394+45598A>CMANE SELECT
NM_018910.3:c.2355+39345A>CMANE SELECT
NM_018911.3:c.2394+32368A>CMANE SELECT
NM_031411.3:c.1602+88191A>C
NM_031849.3:c.1602+46390A>C
NM_031857.2:c.2394+25194A>CMANE SELECT
NM_031860.3:c.1599+18436A>C
NM_031864.3:c.611A>C
NP_061726.1:p.Gln204Pro
NP_114070.1:p.Gln204Pro
NC_000005.9:g.140255668A>C
NM_018903.3:c.611A>C

Protein change:

Q204P

Molecular consequence:

NM_018900.4:c.2394+87399A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_018901.4:c.2388+17647A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_018902.5:c.2391+4589A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_018905.3:c.2388+78731A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_018906.3:c.2394+72492A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_018907.4:c.2385+66511A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_018908.3:c.2352+51956A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_018909.4:c.2394+45598A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_018910.3:c.2355+39345A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_018911.3:c.2394+32368A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_031411.3:c.1602+88191A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_031849.3:c.1602+46390A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_031857.2:c.2394+25194A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_031860.3:c.1599+18436A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_018903.4:c.611A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_031864.3:c.611A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: PCDHA12-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005340298	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely benign (Jul 20, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005340298

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely benign
(Jul 20, 2024)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005340298.1

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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

Last Updated: Oct 8, 2024

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