NM_031885.5(BBS2):c.612+18G>A AND multiple conditions

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 13, 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:: RCV002498318.1

Allele description [Variation Report for NM_031885.5(BBS2):c.612+18G>A]

NM_031885.5(BBS2):c.612+18G>A

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.612+18G>A

HGVS:

NC_000016.10:g.56509939C>T
NG_009312.2:g.15086G>A
NM_001377456.1:c.612+18G>A
NM_031885.5:c.612+18G>AMANE SELECT
NC_000016.9:g.56543851C>T
NG_009312.1:g.15345G>A

Links:

dbSNP: rs200364314

NCBI 1000 Genomes Browser:

rs200364314

Molecular consequence:

NM_001377456.1:c.612+18G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_031885.5:c.612+18G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

Name:: Retinitis pigmentosa 74 (RP74)
Identifiers:: MONDO: MONDO:0014692; MedGen: C4225281; Orphanet: 791; OMIM: 616562

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002806388	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Nov 13, 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

SCV002806388

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Nov 13, 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

Nothing to display

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002806388.1

#	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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