NM_152618.3(BBS12):c.1571A>G (p.Tyr524Cys) AND Bardet-Biedl syndrome 12

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 23, 2017
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:: RCV000668769.2

Allele description [Variation Report for NM_152618.3(BBS12):c.1571A>G (p.Tyr524Cys)]

NM_152618.3(BBS12):c.1571A>G (p.Tyr524Cys)

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.1571A>G (p.Tyr524Cys)

HGVS:

NC_000004.12:g.122743463A>G
NG_021203.1:g.15762A>G
NM_001178007.2:c.1571A>G
NM_152618.3:c.1571A>GMANE SELECT
NP_001171478.1:p.Tyr524Cys
NP_689831.2:p.Tyr524Cys
NC_000004.11:g.123664618A>G
NM_152618.2:c.1571A>G

Protein change:

Y524C

Links:

dbSNP: rs770746493

NCBI 1000 Genomes Browser:

rs770746493

Molecular consequence:

NM_001178007.2:c.1571A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_152618.3:c.1571A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Bardet-Biedl syndrome 12 (BBS12)
Identifiers:: MONDO: MONDO:0014440; MedGen: C1859570; Orphanet: 110; OMIM: 615989

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000793421	Counsyl	no assertion criteria provided	Uncertain significance (Aug 23, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000793421

Counsyl

no assertion criteria provided

Uncertain significance
(Aug 23, 2017)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

Hjortshøj TD, Grønskov K, Philp AR, Nishimura DY, Riise R, Sheffield VC, Rosenberg T, Brøndum-Nielsen K.

Hum Mutat. 2010 Apr;31(4):429-36. doi: 10.1002/humu.21204.

PubMed [citation]

PMID:: 20120035

Details of each submission

From Counsyl, SCV000793421.2

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

Description

This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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

Last Updated: Jul 5, 2025

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