NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter) AND Bardet-Biedl syndrome 9

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 27, 2021
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:: RCV002499805.1

Allele description [Variation Report for NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter)]

NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter)

Gene:

BBS9:Bardet-Biedl syndrome 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p14.3

Genomic location:

Preferred name:

NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter)

HGVS:

NC_000007.14:g.33351260A>T
NG_009306.2:g.227017A>T
NM_001033604.2:c.1433-1599A>T
NM_001033605.2:c.1474A>T
NM_001348036.1:c.1474A>T
NM_001348037.3:c.1108A>T
NM_001348038.3:c.1201A>T
NM_001348039.3:c.1160-1599A>T
NM_001348040.3:c.1432+2090A>T
NM_001348041.4:c.1474A>T
NM_001348042.3:c.1339A>T
NM_001348043.3:c.1474A>T
NM_001348044.3:c.1067-1599A>T
NM_001348045.3:c.1108A>T
NM_001348046.3:c.1108A>T
NM_001362679.1:c.1474A>T
NM_014451.4:c.1432+2090A>T
NM_198428.3:c.1474A>TMANE SELECT
NP_001028777.1:p.Lys492Ter
NP_001334965.1:p.Lys492Ter
NP_001334966.1:p.Lys370Ter
NP_001334967.1:p.Lys401Ter
NP_001334970.1:p.Lys492Ter
NP_001334971.1:p.Lys447Ter
NP_001334972.1:p.Lys492Ter
NP_001334974.1:p.Lys370Ter
NP_001334975.1:p.Lys370Ter
NP_001349608.1:p.Lys492Ter
NP_940820.1:p.Lys492Ter
NC_000007.13:g.33390872A>T
NR_145411.1:n.1753A>T
NR_145412.1:n.1945A>T
NR_145413.3:n.2107A>T

Protein change:

K370*

Links:

dbSNP: rs2128667543

NCBI 1000 Genomes Browser:

rs2128667543

Molecular consequence:

NM_001033604.2:c.1433-1599A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001348039.3:c.1160-1599A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001348040.3:c.1432+2090A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001348044.3:c.1067-1599A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_014451.4:c.1432+2090A>T - intron variant - [Sequence Ontology: SO:0001627]
NR_145411.1:n.1753A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_145412.1:n.1945A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_145413.3:n.2107A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001033605.2:c.1474A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001348036.1:c.1474A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001348037.3:c.1108A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001348038.3:c.1201A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001348041.4:c.1474A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001348042.3:c.1339A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001348043.3:c.1474A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001348045.3:c.1108A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001348046.3:c.1108A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001362679.1:c.1474A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_198428.3:c.1474A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Bardet-Biedl syndrome 9 (BBS9)
Identifiers:: MONDO: MONDO:0014437; MedGen: C1859567; Orphanet: 110; OMIM: 615986

Recent activity

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Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), ...
Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 4, mRNA
gi|1675009235|ref|NM_001308304.2|

Nucleotide
RNU6-743P RNA, U6 small nuclear 743, pseudogene [Homo sapiens]
RNU6-743P RNA, U6 small nuclear 743, pseudogene [Homo sapiens]
Gene ID:106480605

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002811633	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 27, 2021)	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

SCV002811633

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 27, 2021)

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

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 Fulgent Genetics, Fulgent Genetics, SCV002811633.1

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

Last Updated: Sep 29, 2024

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