NM_001199563.2(POPDC1):c.842T>C (p.Leu281Pro) AND BVES-related disorder

Germline classification:: Benign (1 submission)
Last evaluated:: Sep 23, 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:: RCV003931188.2

Allele description [Variation Report for NM_001199563.2(POPDC1):c.842T>C (p.Leu281Pro)]

NM_001199563.2(POPDC1):c.842T>C (p.Leu281Pro)

Gene:

POPDC1:popeye domain cAMP effector 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q21

Genomic location:

Preferred name:

NM_001199563.2(POPDC1):c.842T>C (p.Leu281Pro)

HGVS:

NC_000006.12:g.105115802A>G
NG_046732.1:g.26373T>C
NM_001199563.2:c.842T>CMANE SELECT
NM_007073.4:c.842T>C
NM_147147.4:c.842T>C
NP_001186492.1:p.Leu281Pro
NP_009004.2:p.Leu281Pro
NP_671488.1:p.Leu281Pro
NC_000006.11:g.105563677A>G

Protein change:

L281P

Links:

dbSNP: rs41285458

NCBI 1000 Genomes Browser:

rs41285458

Molecular consequence:

NM_001199563.2:c.842T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_007073.4:c.842T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_147147.4:c.842T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004738705	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Benign (Sep 23, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004738705

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Benign
(Sep 23, 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, SCV004738705.2

#	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 20, 2024

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