NM_031885.5(BBS2):c.209G>A (p.Ser70Asn) AND Bardet-Biedl syndrome 2

Germline classification:: Benign (3 submissions)
Last evaluated:: Jul 14, 2021
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:: RCV000989606.5

Allele description [Variation Report for NM_031885.5(BBS2):c.209G>A (p.Ser70Asn)]

NM_031885.5(BBS2):c.209G>A (p.Ser70Asn)

Gene:

BBS2:Bardet-Biedl syndrome 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q13

Genomic location:

Preferred name:

NM_031885.5(BBS2):c.209G>A (p.Ser70Asn)

HGVS:

NC_000016.10:g.56514589C>T
NG_009312.2:g.10436G>A
NM_001377456.1:c.209G>A
NM_031885.5:c.209G>AMANE SELECT
NP_001364385.1:p.Ser70Asn
NP_114091.3:p.Asn70=
NP_114091.4:p.Ser70Asn
NC_000016.9:g.56548501C>T
NG_009312.1:g.10695=
NM_031885.2:c.209G>A
NM_031885.3:c.209=
NM_031885.4:c.209=
NR_165293.1:n.371G>A
NR_165294.1:n.371G>A
NR_165295.1:n.371G>A
NR_165296.1:n.371G>A
NR_165297.1:n.371G>A

Protein change:

S70N

Links:

dbSNP: rs4784677

NCBI 1000 Genomes Browser:

rs4784677

Molecular consequence:

NM_001377456.1:c.209G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_031885.5:c.209G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_165293.1:n.371G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165294.1:n.371G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165295.1:n.371G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165296.1:n.371G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165297.1:n.371G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Bardet-Biedl syndrome 2 (BBS2)
Identifiers:: MONDO: MONDO:0014432; MedGen: C2936863; Orphanet: 110; OMIM: 615981

Recent activity

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phospholipid-transporting ATPase IH isoform e [Homo sapiens]
phospholipid-transporting ATPase IH isoform e [Homo sapiens]
gi|2232462112|ref|NP_001392592.1|

Protein
LOC129258500 [Lytechinus pictus]
LOC129258500 [Lytechinus pictus]
Gene ID:129258500

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001140110	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Benign (May 28, 2019)	unknown	clinical testing	Citation Link,
SCV001775076	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jul 14, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002089310	Natera, Inc.	no assertion criteria provided	Benign (Nov 16, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001140110

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Benign
(May 28, 2019)

unknown

clinical testing

Citation Link,

SCV001775076

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Jul 14, 2021)

germline

clinical testing

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

SCV002089310

Natera, Inc.

no assertion criteria provided

Benign
(Nov 16, 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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Mendelics, SCV001140110.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome-Nilou Lab, SCV001775076.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Natera, Inc., SCV002089310.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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