NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) AND Bardet-Biedl syndrome 1

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: May 31, 2017
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000709653.2

Allele description [Variation Report for NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser)]

NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser)

Gene:

WDPCP:WD repeat containing planar cell polarity effector [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p15

Genomic location:

Preferred name:

NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser)

HGVS:

NC_000002.12:g.63174685T>C
NG_028144.2:g.671141A>G
NM_001042692.3:c.1586A>G
NM_001354044.2:c.1991A>G
NM_015910.7:c.2063A>GMANE SELECT
NP_001036157.1:p.Asn529Ser
NP_001340973.1:p.Asn664Ser
NP_056994.3:p.Asn688Ser
NC_000002.11:g.63401820T>C
NM_015910.5:c.2063A>G
NR_122106.2:n.1706A>G
NR_148704.2:n.2517A>G
NR_148705.2:n.2166A>G

Protein change:

N529S

Links:

dbSNP: rs61734468

NCBI 1000 Genomes Browser:

rs61734468

Molecular consequence:

NM_001042692.3:c.1586A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354044.2:c.1991A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_015910.7:c.2063A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_122106.2:n.1706A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148704.2:n.2517A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148705.2:n.2166A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Bardet-Biedl syndrome 1 (BBS1)
Identifiers:: MONDO: MONDO:0008854; MedGen: C2936862; OMIM: 209900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000743214	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus	criteria provided, single submitter (ACGS Guidelines, 2013)	Benign (Oct 9, 2014)	germline	clinical testing	Citation Link,
SCV000744307	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus	criteria provided, single submitter (ACGS Guidelines, 2013)	Likely benign (May 31, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000743214

Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

criteria provided, single submitter

(ACGS Guidelines, 2013)

Benign
(Oct 9, 2014)

germline

clinical testing

Citation Link,

SCV000744307

Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

criteria provided, single submitter

(ACGS Guidelines, 2013)

Likely benign
(May 31, 2017)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV000743214.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000744307.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 11, 2024

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