NM_032088.2(PCDHGA8):c.2051C>G (p.Pro684Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 16, 2024
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:: RCV004498349.1

Allele description [Variation Report for NM_032088.2(PCDHGA8):c.2051C>G (p.Pro684Arg)]

NM_032088.2(PCDHGA8):c.2051C>G (p.Pro684Arg)

Genes:

PCDHG@:protocadherin gamma cluster [Gene - OMIM - HGNC]
PCDHGA1:protocadherin gamma subfamily A, 1 [Gene - OMIM - HGNC]
PCDHGA2:protocadherin gamma subfamily A, 2 [Gene - OMIM - HGNC]
PCDHGA3:protocadherin gamma subfamily A, 3 [Gene - OMIM - HGNC]
PCDHGA4:protocadherin gamma subfamily A, 4 [Gene - OMIM - HGNC]
PCDHGA5:protocadherin gamma subfamily A, 5 [Gene - OMIM - HGNC]
PCDHGA6:protocadherin gamma subfamily A, 6 [Gene - OMIM - HGNC]
PCDHGA7:protocadherin gamma subfamily A, 7 [Gene - OMIM - HGNC]
PCDHGA8:protocadherin gamma subfamily A, 8 [Gene - OMIM - HGNC]
PCDHGB1:protocadherin gamma subfamily B, 1 [Gene - OMIM - HGNC]
PCDHGB2:protocadherin gamma subfamily B, 2 [Gene - OMIM - HGNC]
PCDHGB3:protocadherin gamma subfamily B, 3 [Gene - OMIM - HGNC]
PCDHGB4:protocadherin gamma subfamily B, 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.3

Genomic location:

Preferred name:

NM_032088.2(PCDHGA8):c.2051C>G (p.Pro684Arg)

HGVS:

NC_000005.10:g.141394864C>G
NG_000012.2:g.105061C>G
NM_003736.4:c.2397+4583C>GMANE SELECT
NM_014004.3:c.2051C>G
NM_018912.3:c.2421+61759C>GMANE SELECT
NM_018915.4:c.2424+53469C>GMANE SELECT
NM_018916.4:c.2424+48407C>GMANE SELECT
NM_018917.4:c.2514+37243C>GMANE SELECT
NM_018918.3:c.2421+28113C>GMANE SELECT
NM_018919.3:c.2424+18357C>GMANE SELECT
NM_018920.4:c.2424+9541C>GMANE SELECT
NM_018922.3:c.2409+42195C>GMANE SELECT
NM_018923.3:c.2421+32308C>GMANE SELECT
NM_018924.5:c.2415+22055C>GMANE SELECT
NM_032088.2:c.2051C>GMANE SELECT
NP_054723.1:p.Pro684Arg
NP_114477.1:p.Pro684Arg
NC_000005.9:g.140774431C>G
NM_032088.1:c.2051C>G

Protein change:

P684R

Molecular consequence:

NM_003736.4:c.2397+4583C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_018912.3:c.2421+61759C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_018915.4:c.2424+53469C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_018916.4:c.2424+48407C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_018917.4:c.2514+37243C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_018918.3:c.2421+28113C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_018919.3:c.2424+18357C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_018920.4:c.2424+9541C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_018922.3:c.2409+42195C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_018923.3:c.2421+32308C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_018924.5:c.2415+22055C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_014004.3:c.2051C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_032088.2:c.2051C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004998975	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 16, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004998975

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 16, 2024)

germline

clinical testing

Citation Link

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 Ambry Genetics, SCV004998975.1

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

Description

The c.2051C>G (p.P684R) alteration is located in exon 1 (coding exon 1) of the PCDHGA8 gene. This alteration results from a C to G substitution at nucleotide position 2051, causing the proline (P) at amino acid position 684 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Sep 1, 2024

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