NM_000492.4(CFTR):c.3039del (p.Tyr1014fs) AND CFTR-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 17, 2017
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:: RCV001826653.1

Allele description [Variation Report for NM_000492.4(CFTR):c.3039del (p.Tyr1014fs)]

NM_000492.4(CFTR):c.3039del (p.Tyr1014fs)

Genes:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
LOC111674472:DNase I hypersensitive sites in introns 16 and 17a of CFTR [Gene]

Variant type:

Deletion

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.3039del (p.Tyr1014fs)

Other names:

3171delC

HGVS:

NC_000007.14:g.117610569del
NG_016465.4:g.149786del
NG_056128.2:g.3623del
NM_000492.4:c.3039delMANE SELECT
NP_000483.3:p.Tyr1014fs
LRG_663:g.149786del
NC_000007.13:g.117250621del
NC_000007.13:g.117250623del
NC_000007.13:g.117250623del
NM_000492.3:c.3039delC
p.Tyr1014ThrfsX9

Protein change:

Y1014fs

Links:

dbSNP: rs121908781

NCBI 1000 Genomes Browser:

rs121908781

Molecular consequence:

NM_000492.4:c.3039del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

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Alternaria sp. MY-2011 isolate AM-44 18S small subunit ribosomal RNA gene, parti...
Alternaria sp. MY-2011 isolate AM-44 18S small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 28S large subunit ribosomal RNA gene, partial sequence
gi|345421911|gb|JN038485.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002083580	Natera, Inc.	no assertion criteria provided	Pathogenic (Mar 17, 2017)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002083580

Natera, Inc.

no assertion criteria provided

Pathogenic
(Mar 17, 2017)

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., SCV002083580.1

#	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: Sep 29, 2024

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