NM_031885.5(BBS2):c.367A>G (p.Ile123Val) AND not provided

Germline classification:: Benign (2 submissions)
Last evaluated:: Nov 10, 2018
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:: RCV001706364.2

Allele description [Variation Report for NM_031885.5(BBS2):c.367A>G (p.Ile123Val)]

NM_031885.5(BBS2):c.367A>G (p.Ile123Val)

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.367A>G (p.Ile123Val)

HGVS:

NC_000016.10:g.56511263T>C
NG_009312.2:g.13762A>G
NM_001377456.1:c.367A>G
NM_031885.5:c.367A>GMANE SELECT
NP_001364385.1:p.Ile123Val
NP_114091.3:p.Ile123Val
NP_114091.4:p.Ile123Val
NC_000016.9:g.56545175T>C
NG_009312.1:g.14021A>G
NM_031885.2:c.367A>G
NM_031885.3:c.367A>G
NM_031885.4:c.367A>G
NR_165293.1:n.529A>G
NR_165294.1:n.529A>G
NR_165295.1:n.529A>G
NR_165296.1:n.529A>G
NR_165297.1:n.529A>G

Protein change:

I123V

Links:

dbSNP: rs11373

NCBI 1000 Genomes Browser:

rs11373

Molecular consequence:

NM_001377456.1:c.367A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_031885.5:c.367A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_165293.1:n.529A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165294.1:n.529A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165295.1:n.529A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165296.1:n.529A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165297.1:n.529A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Latimeria chalumnae isolate SAIAB 97564 contig067842, whole genome shotgun seque...
Latimeria chalumnae isolate SAIAB 97564 contig067842, whole genome shotgun sequence
gi|346146994|gb|AFYH01067842.1||gnl AFYH01|contig067842

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001883535	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Nov 10, 2018)	germline	clinical testing	Citation Link,
SCV005292130	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001883535

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Nov 10, 2018)

germline

clinical testing

Citation Link,

SCV005292130

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

not provided

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	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing, not provided

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 GeneDx, SCV001883535.1

#	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 associated with the following publications: (PMID: 24746959, 20498079, 24400638)

#	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 Breakthrough Genomics, Breakthrough Genomics, SCV005292130.1

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

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine