NM_176824.3(BBS7):c.174del (p.Phe58fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 30, 2018
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:: RCV001266035.2

Allele description [Variation Report for NM_176824.3(BBS7):c.174del (p.Phe58fs)]

NM_176824.3(BBS7):c.174del (p.Phe58fs)

Gene:

BBS7:Bardet-Biedl syndrome 7 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4q27

Genomic location:

Preferred name:

NM_176824.3(BBS7):c.174del (p.Phe58fs)

HGVS:

NC_000004.12:g.121861671del
NG_009111.1:g.13817del
NM_018190.4:c.174del
NM_176824.3:c.174delMANE SELECT
NP_060660.2:p.Phe58fs
NP_789794.1:p.Phe58fs
NC_000004.11:g.122782826del
NM_176824.2:c.174delC

Protein change:

F58fs

Links:

dbSNP: rs1726987563

NCBI 1000 Genomes Browser:

rs1726987563

Molecular consequence:

NM_018190.4:c.174del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_176824.3:c.174del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001444207	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Oct 30, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001444207

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Oct 30, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001444207.2

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

Last Updated: Jan 7, 2023

ClinVar

Relating variation to medicine