NM_018898.5(PCDHAC1):c.380G>A (p.Gly127Asp) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 15, 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:: RCV004664373.1

Allele description [Variation Report for NM_018898.5(PCDHAC1):c.380G>A (p.Gly127Asp)]

NM_018898.5(PCDHAC1):c.380G>A (p.Gly127Asp)

Genes:

PCDHA10:protocadherin alpha 10 [Gene - OMIM - HGNC]
PCDHA11:protocadherin alpha 11 [Gene - OMIM - HGNC]
PCDHA12:protocadherin alpha 12 [Gene - OMIM - HGNC]
PCDHA13:protocadherin alpha 13 [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]
PCDHAC1:protocadherin alpha subfamily C, 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.3

Genomic location:

Preferred name:

NM_018898.5(PCDHAC1):c.380G>A (p.Gly127Asp)

HGVS:

NC_000005.10:g.140927272G>A
NG_000016.2:g.193146G>A
NG_050672.1:g.5556G>A
NG_050674.1:g.76390G>A
NG_050675.1:g.131075G>A
NG_050677.1:g.137414G>A
NG_106018.1:g.491G>A
NM_018898.5:c.380G>AMANE SELECT
NM_018900.4:c.2395-51677G>AMANE SELECT
NM_018901.4:c.2389-51677G>AMANE SELECT
NM_018902.5:c.2392-51677G>AMANE SELECT
NM_018903.4:c.2367+49433G>AMANE SELECT
NM_018904.3:c.2394+42610G>AMANE SELECT
NM_018905.3:c.2389-51677G>AMANE SELECT
NM_018906.3:c.2395-51677G>AMANE SELECT
NM_018907.4:c.2386-51677G>AMANE SELECT
NM_018908.3:c.2353-51677G>AMANE SELECT
NM_018909.4:c.2395-51677G>AMANE SELECT
NM_018910.3:c.2356-51677G>AMANE SELECT
NM_018911.3:c.2395-51677G>AMANE SELECT
NM_031411.3:c.1603-51677G>A
NM_031849.3:c.1603-51677G>A
NM_031857.2:c.2395-51677G>AMANE SELECT
NM_031860.3:c.1600-51677G>A
NM_031882.3:c.380G>A
NP_061721.2:p.Gly127Asp
NP_114088.2:p.Gly127Asp
NC_000005.9:g.140306857G>A
NM_018898.3:c.380G>A

Protein change:

G127D

Molecular consequence:

NM_018900.4:c.2395-51677G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_018901.4:c.2389-51677G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_018902.5:c.2392-51677G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_018903.4:c.2367+49433G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_018904.3:c.2394+42610G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_018905.3:c.2389-51677G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_018906.3:c.2395-51677G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_018907.4:c.2386-51677G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_018908.3:c.2353-51677G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_018909.4:c.2395-51677G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_018910.3:c.2356-51677G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_018911.3:c.2395-51677G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_031411.3:c.1603-51677G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_031849.3:c.1603-51677G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_031857.2:c.2395-51677G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_031860.3:c.1600-51677G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_018898.5:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_031882.3:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005150945	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 15, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005150945

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 15, 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, SCV005150945.1

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

Description

The c.380G>A (p.G127D) alteration is located in exon 1 (coding exon 1) of the PCDHAC1 gene. This alteration results from a G to A substitution at nucleotide position 380, causing the glycine (G) at amino acid position 127 to be replaced by an aspartic acid (D). 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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