NM_001384140.1(PCDH15):c.3673A>G (p.Thr1225Ala) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 9, 2021
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:: RCV004034667.1

Allele description [Variation Report for NM_001384140.1(PCDH15):c.3673A>G (p.Thr1225Ala)]

NM_001384140.1(PCDH15):c.3673A>G (p.Thr1225Ala)

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.3673A>G (p.Thr1225Ala)

HGVS:

NC_000010.11:g.53866686T>C
NG_009191.3:g.1767497A>G
NM_001142763.2:c.3688A>G
NM_001142764.2:c.3673A>G
NM_001142765.2:c.3460A>G
NM_001142766.2:c.3673A>G
NM_001142767.2:c.3562A>G
NM_001142768.2:c.3607A>G
NM_001142769.3:c.3709A>G
NM_001142770.3:c.3673A>G
NM_001142771.2:c.3688A>G
NM_001142772.2:c.3673A>G
NM_001142773.2:c.3607A>G
NM_001354404.2:c.3607A>G
NM_001354411.2:c.3694A>G
NM_001354420.2:c.3673A>G
NM_001354429.2:c.3673A>G
NM_001384140.1:c.3673A>GMANE SELECT
NM_033056.4:c.3673A>G
NP_001136235.1:p.Thr1230Ala
NP_001136236.1:p.Thr1225Ala
NP_001136237.1:p.Thr1154Ala
NP_001136238.1:p.Thr1225Ala
NP_001136239.1:p.Thr1188Ala
NP_001136240.1:p.Thr1203Ala
NP_001136241.1:p.Thr1237Ala
NP_001136242.1:p.Thr1225Ala
NP_001136243.1:p.Thr1230Ala
NP_001136244.1:p.Thr1225Ala
NP_001136245.1:p.Thr1203Ala
NP_001341333.1:p.Thr1203Ala
NP_001341340.1:p.Thr1232Ala
NP_001341349.1:p.Thr1225Ala
NP_001341358.1:p.Thr1225Ala
NP_001371069.1:p.Thr1225Ala
NP_149045.3:p.Thr1225Ala
NC_000010.10:g.55626446T>C
NM_033056.3:c.3673A>G

Protein change:

T1154A

Links:

dbSNP: rs61731381

NCBI 1000 Genomes Browser:

rs61731381

Molecular consequence:

NM_001142763.2:c.3688A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001142764.2:c.3673A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001142765.2:c.3460A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001142766.2:c.3673A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001142767.2:c.3562A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001142768.2:c.3607A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001142769.3:c.3709A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001142770.3:c.3673A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001142771.2:c.3688A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001142772.2:c.3673A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001142773.2:c.3607A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354404.2:c.3607A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354411.2:c.3694A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354420.2:c.3673A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354429.2:c.3673A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001384140.1:c.3673A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_033056.4:c.3673A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Human ribosomal protein L5 pseudogene mRNA, complete cds
Human ribosomal protein L5 pseudogene mRNA, complete cds
gi|1575566|gb|U66589.1|HSU66589

Nucleotide
GspH [Burkholderia cepacia]
GspH [Burkholderia cepacia]
gi|11559480|dbj|BAB18793.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004998833	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 9, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004998833

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 9, 2021)

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, SCV004998833.1

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

Description

The c.3673A>G (p.T1225A) alteration is located in exon 27 (coding exon 26) of the PCDH15 gene. This alteration results from a A to G substitution at nucleotide position 3673, causing the threonine (T) at amino acid position 1225 to be replaced by an alanine (A). 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 29, 2024

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