NM_013340.4(PCDHB1):c.1742C>T (p.Ala581Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 28, 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:: RCV004274095.1

Allele description [Variation Report for NM_013340.4(PCDHB1):c.1742C>T (p.Ala581Val)]

NM_013340.4(PCDHB1):c.1742C>T (p.Ala581Val)

Genes:

PCDHB1-AS1:PCDHB1 antisense RNA 1 [Gene - HGNC]
PCDHB1:protocadherin beta 1 [Gene - OMIM - HGNC]
PCDHB@:protocadherin beta cluster [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.3

Genomic location:

Preferred name:

NM_013340.4(PCDHB1):c.1742C>T (p.Ala581Val)

HGVS:

NC_000005.10:g.141053212C>T
NG_000017.2:g.21349C>T
NG_050759.1:g.6837C>T
NM_013340.4:c.1742C>TMANE SELECT
NP_037472.2:p.Ala581Val
NP_037472.2:p.Ala581Val
NC_000005.9:g.140432797C>T
NM_013340.2:c.1742C>T
NM_013340.3:c.1742C>T

Protein change:

A581V

Molecular consequence:

NM_013340.4:c.1742C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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BCL-6 corepressor-like protein 1 isoform X1 [Rattus norvegicus]
BCL-6 corepressor-like protein 1 isoform X1 [Rattus norvegicus]
gi|1958807184|ref|XP_038955597.1|

Protein
GEL complex subunit OPTI [Mus musculus]
GEL complex subunit OPTI [Mus musculus]
gi|13385630|ref|NP_080400.1|

Protein
Ascaridiasis
Ascaridiasis
Infection with nematodes of the genus ASCARIDIA. This condition usually occurs in fowl, often manifesting diarrhea.<br/>Year introduced: 1991(1975)

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003908469	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 28, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003908469

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 28, 2023)

germline

clinical testing

Citation Link

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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, SCV003908469.2

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

Description

The c.1742C>T (p.A581V) alteration is located in exon 1 (coding exon 1) of the PCDHB1 gene. This alteration results from a C to T substitution at nucleotide position 1742, causing the alanine (A) at amino acid position 581 to be replaced by a valine (V). 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: Nov 10, 2024

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