NM_000492.4(CFTR):c.233del (p.Phe78fs) AND Bronchiectasis with or without elevated sweat chloride 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 21, 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:: RCV003473482.1

Allele description [Variation Report for NM_000492.4(CFTR):c.233del (p.Phe78fs)]

NM_000492.4(CFTR):c.233del (p.Phe78fs)

Gene:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.233del (p.Phe78fs)

HGVS:

NC_000007.14:g.117509102del
NG_016465.4:g.48319del
NG_062452.1:g.740del
NM_000492.4:c.233delMANE SELECT
NP_000483.3:p.Phe78fs
LRG_663:g.48319del
NC_000007.13:g.117149156del
NM_000492.3:c.233delT

Protein change:

F78fs

Links:

dbSNP: rs397508360

NCBI 1000 Genomes Browser:

rs397508360

Molecular consequence:

NM_000492.4:c.233del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Bronchiectasis with or without elevated sweat chloride 1 (BESC1)
Synonyms:: Cystic Fibrosis-Like Syndrome
Identifiers:: MONDO: MONDO:0008887; MedGen: C2749757; Orphanet: 60033; OMIM: 211400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004213366	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 21, 2023)	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

SCV004213366

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 21, 2023)

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 Baylor Genetics, SCV004213366.1

#	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: Dec 30, 2023

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