NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu) AND Bardet-Biedl syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 2, 2023
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:: RCV003221799.2

Allele description [Variation Report for NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu)]

NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu)

Gene:

BBS10:Bardet-Biedl syndrome 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q21.2

Genomic location:

Preferred name:

NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu)

Other names:

BBS10 p.G401E

HGVS:

NC_000012.12:g.76346783C>T
NG_016357.1:g.6660G>A
NM_024685.4:c.1202G>AMANE SELECT
NP_078961.3:p.Gly401Glu
LRG_1255t1:c.1202G>A
LRG_1255:g.6660G>A
LRG_1255p1:p.Gly401Glu
NC_000012.11:g.76740563C>T

Protein change:

G401E

Links:

dbSNP: rs199474722

NCBI 1000 Genomes Browser:

rs199474722

Molecular consequence:

NM_024685.4:c.1202G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Bardet-Biedl syndrome (BBS)
Identifiers:: MONDO: MONDO:0015229; MedGen: C0752166; Orphanet: 110; OMIM: PS209900

Recent activity

Clear Turn Off Turn On

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
SCV003915879	SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 2, 2023)	biparental	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003915879

SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 2, 2023)

biparental

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	biparental	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation, SCV003915879.2

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

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

Last Updated: Jun 10, 2023

ClinVar

Relating variation to medicine