NM_001871.3(CPB1):c.694T>C (p.Phe232Leu) AND CPB1-related disorder

Germline classification:: Benign (1 submission)
Last evaluated:: Feb 26, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003917008.2

Allele description [Variation Report for NM_001871.3(CPB1):c.694T>C (p.Phe232Leu)]

NM_001871.3(CPB1):c.694T>C (p.Phe232Leu)

Gene:

CPB1:carboxypeptidase B1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q24

Genomic location:

Preferred name:

NM_001871.3(CPB1):c.694T>C (p.Phe232Leu)

HGVS:

NC_000003.12:g.148844683T>C
NM_001871.3:c.694T>CMANE SELECT
NP_001862.2:p.Phe232Leu
NC_000003.11:g.148562470T>C
NM_001871.2:c.694T>C

Protein change:

F232L

Molecular consequence:

NM_001871.3:c.694T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: CPB1-related disorder
Synonyms:: CPB1-related condition
Identifiers:

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PREDICTED: Homo sapiens uncharacterized lncRNA (LOC105378621), transcript varian...
PREDICTED: Homo sapiens uncharacterized lncRNA (LOC105378621), transcript variant X1, ncRNA
gi|2217456844|ref|XR_007070017.1|

Nucleotide
1500041N16Rik protein [Mus musculus]
1500041N16Rik protein [Mus musculus]
gi|13542766|gb|AAH05587.1|

Protein
Ifalukella yanii MutS-like protein (msh1) gene, partial cds; mitochondrial
Ifalukella yanii MutS-like protein (msh1) gene, partial cds; mitochondrial
gi|108884944|gb|DQ536319.1|

Nucleotide
ubiquitin-conjugating enzyme E2 Z [Mus musculus]
ubiquitin-conjugating enzyme E2 Z [Mus musculus]
gi|110681729|ref|NP_758504.3|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004734623	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Benign (Feb 26, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004734623

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Benign
(Feb 26, 2019)

germline

clinical testing

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 PreventionGenetics, part of Exact Sciences, SCV004734623.2

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

Description

This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	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: Oct 13, 2024

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