NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg) AND Bardet-Biedl syndrome 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 1, 2016
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:: RCV000709681.3

Allele description [Variation Report for NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg)]

NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg)

Gene:

BBS12:Bardet-Biedl syndrome 12 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q27

Genomic location:

Preferred name:

NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg)

HGVS:

NC_000004.12:g.122743751A>G
NG_021203.1:g.16050A>G
NM_001178007.2:c.1859A>G
NM_152618.3:c.1859A>GMANE SELECT
NP_001171478.1:p.Gln620Arg
NP_001171478.1:p.Gln620Arg
NP_689831.2:p.Gln620Arg
NC_000004.11:g.123664906A>G
NM_001178007.1:c.1859A>G
NM_152618.2:c.1859A>G

Protein change:

Q620R

Links:

dbSNP: rs139278612

NCBI 1000 Genomes Browser:

rs139278612

Molecular consequence:

NM_001178007.2:c.1859A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_152618.3:c.1859A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000744985	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus	criteria provided, single submitter (ACGS Guidelines, 2013)	Uncertain significance (Jul 1, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000744985

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

criteria provided, single submitter

(ACGS Guidelines, 2013)

Uncertain significance
(Jul 1, 2016)

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 Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000744985.1

#	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: Mar 16, 2024

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