NM_000492.4(CFTR):c.1801del (p.Ile601fs) AND CFTR-related disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 1, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001828595.1

Allele description [Variation Report for NM_000492.4(CFTR):c.1801del (p.Ile601fs)]

NM_000492.4(CFTR):c.1801del (p.Ile601fs)

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.1801del (p.Ile601fs)

HGVS:

NC_000007.14:g.117591968del
NG_016465.4:g.131185del
NM_000492.4:c.1801delMANE SELECT
NP_000483.3:p.Ile601fs
LRG_663t1:c.1801del
LRG_663:g.131185del
NC_000007.13:g.117232022del
NM_000492.3:c.1801del

Protein change:

I601fs

Links:

dbSNP: rs1792031758

NCBI 1000 Genomes Browser:

rs1792031758

Molecular consequence:

NM_000492.4:c.1801del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: CFTR-related disorder (CFTR-RD)
Synonyms:: CFTR-related disorders; CFTR-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002080680	Natera, Inc.	no assertion criteria provided	Likely pathogenic (Jul 1, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002080680

Natera, Inc.

no assertion criteria provided

Likely pathogenic
(Jul 1, 2019)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002080680.1

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

Last Updated: May 19, 2024

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