NM_000747.3(CHRNB1):c.919del (p.Ile307fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2016
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:: RCV000338656.1

Allele description [Variation Report for NM_000747.3(CHRNB1):c.919del (p.Ile307fs)]

NM_000747.3(CHRNB1):c.919del (p.Ile307fs)

Gene:

CHRNB1:cholinergic receptor nicotinic beta 1 subunit [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000747.3(CHRNB1):c.919del (p.Ile307fs)

HGVS:

NC_000017.11:g.7454395del
NG_008026.1:g.14309del
NM_000747.3:c.919delMANE SELECT
NP_000738.2:p.Ile307fs
NC_000017.10:g.7357714del
NM_000747.2:c.919delA

Protein change:

I307fs

Links:

dbSNP: rs886041490

NCBI 1000 Genomes Browser:

rs886041490

Molecular consequence:

NM_000747.3:c.919del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000330154	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Nov 1, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000330154

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Nov 1, 2016)

germline

clinical testing

Citation Link

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

Details of each submission

From GeneDx, SCV000330154.6

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

Description

The c.919delA variant in the CHRNB1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Isoleucine 307, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 54 of the new reading frame, denoted p.Ile307LeufsX54. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.919delA variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.919delA as a pathogenic variant.

#	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: Apr 23, 2022

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