NM_018929.3(PCDHGC5):c.551C>T (p.Thr184Ile) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 23, 2023
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:: RCV004500566.1

Allele description [Variation Report for NM_018929.3(PCDHGC5):c.551C>T (p.Thr184Ile)]

NM_018929.3(PCDHGC5):c.551C>T (p.Thr184Ile)

Genes:

PCDHG@:protocadherin gamma cluster [Gene - OMIM - HGNC]
PCDHGA10:protocadherin gamma subfamily A, 10 [Gene - OMIM - HGNC]
PCDHGA11:protocadherin gamma subfamily A, 11 [Gene - OMIM - HGNC]
PCDHGA12:protocadherin gamma subfamily A, 12 [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]
PCDHGA9:protocadherin gamma subfamily A, 9 [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]
PCDHGB5:protocadherin gamma subfamily B, 5 [Gene - OMIM - HGNC]
PCDHGB6:protocadherin gamma subfamily B, 6 [Gene - OMIM - HGNC]
PCDHGB7:protocadherin gamma subfamily B, 7 [Gene - OMIM - HGNC]
PCDHGC3:protocadherin gamma subfamily C, 3 [Gene - OMIM - HGNC]
PCDHGC4:protocadherin gamma subfamily C, 4 [Gene - OMIM - HGNC]
PCDHGC5:protocadherin gamma subfamily C, 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.3

Genomic location:

Preferred name:

NM_018929.3(PCDHGC5):c.551C>T (p.Thr184Ile)

HGVS:

NC_000005.10:g.141489791C>T
NG_000012.2:g.199988C>T
NG_050746.1:g.9618C>T
NM_001386884.1:c.12+4606C>T
NM_002588.4:c.2431-5016C>TMANE SELECT
NM_003735.3:c.2425-5016C>TMANE SELECT
NM_003736.4:c.2398-5016C>TMANE SELECT
NM_018912.3:c.2422-5016C>TMANE SELECT
NM_018913.3:c.2437-5016C>TMANE SELECT
NM_018914.3:c.2434-5016C>TMANE SELECT
NM_018915.4:c.2425-5016C>TMANE SELECT
NM_018916.4:c.2425-5016C>TMANE SELECT
NM_018917.4:c.2515-5016C>TMANE SELECT
NM_018918.3:c.2422-5016C>TMANE SELECT
NM_018919.3:c.2425-5016C>TMANE SELECT
NM_018920.4:c.2425-5016C>TMANE SELECT
NM_018921.3:c.2425-5016C>TMANE SELECT
NM_018922.3:c.2410-5016C>TMANE SELECT
NM_018923.3:c.2422-5016C>TMANE SELECT
NM_018924.5:c.2416-5016C>TMANE SELECT
NM_018925.3:c.2398-5016C>TMANE SELECT
NM_018926.3:c.2419-5016C>TMANE SELECT
NM_018927.4:c.2416-5016C>TMANE SELECT
NM_018928.3:c.2442+2176C>TMANE SELECT
NM_018929.3:c.551C>TMANE SELECT
NM_032088.2:c.2425-5016C>TMANE SELECT
NM_032092.2:c.1879-5016C>T
NM_032403.3:c.31-5016C>T
NM_032407.1:c.551C>T
NP_061752.1:p.Thr184Ile
NP_115783.1:p.Thr184Ile
NC_000005.9:g.140869358C>T
NM_018929.2:c.551C>T

Protein change:

T184I

Molecular consequence:

NM_001386884.1:c.12+4606C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_002588.4:c.2431-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_003735.3:c.2425-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_003736.4:c.2398-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_018912.3:c.2422-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_018913.3:c.2437-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_018914.3:c.2434-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_018915.4:c.2425-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_018916.4:c.2425-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_018917.4:c.2515-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_018918.3:c.2422-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_018919.3:c.2425-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_018920.4:c.2425-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_018921.3:c.2425-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_018922.3:c.2410-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_018923.3:c.2422-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_018924.5:c.2416-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_018925.3:c.2398-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_018926.3:c.2419-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_018927.4:c.2416-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_018928.3:c.2442+2176C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_032088.2:c.2425-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_032092.2:c.1879-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_032403.3:c.31-5016C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_018929.3:c.551C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_032407.1:c.551C>T - 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
SCV005001000	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 23, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005001000

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 23, 2023)

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, SCV005001000.1

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

Description

The c.551C>T (p.T184I) alteration is located in exon 1 (coding exon 1) of the PCDHGC5 gene. This alteration results from a C to T substitution at nucleotide position 551, causing the threonine (T) at amino acid position 184 to be replaced by an isoleucine (I). 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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