NM_000492.4(CFTR):c.313del (p.Ile105fs) AND CFTR-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 20, 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:: RCV001027892.1

Allele description [Variation Report for NM_000492.4(CFTR):c.313del (p.Ile105fs)]

NM_000492.4(CFTR):c.313del (p.Ile105fs)

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.313del (p.Ile105fs)

Other names:

444delA; c.313delA; p.Ile105Serfs*2

HGVS:

NC_000007.13:g.117170991del
NC_000007.14:g.117530938del
NG_016465.4:g.70155del
NM_000492.4:c.313delMANE SELECT
NP_000483.3:p.Ile105fs
LRG_663:g.70155del
NC_000007.13:g.117170991del
NC_000007.13:g.117170992del
NC_000007.13:g.117170992delA
NM_000492.3:c.313delA
p.Ile105SerfsX2

Links:

dbSNP: rs121908801

NCBI 1000 Genomes Browser:

rs121908801

Molecular consequence:

NM_000492.4:c.313del - 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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Tmprss11f transmembrane protease, serine 11f [Mus musculus]
Tmprss11f transmembrane protease, serine 11f [Mus musculus]
Gene ID:243083

Gene
243083[uid] AND (alive[prop]) (1)
Gene
unnamed protein product [Mus musculus]
unnamed protein product [Mus musculus]
gi|26333873|dbj|BAC30654.1|

Protein
JGI_CABA2519.rev NIH_XGC_tropKid1 Xenopus tropicalis cDNA clone IMAGE:7747376 3'...
JGI_CABA2519.rev NIH_XGC_tropKid1 Xenopus tropicalis cDNA clone IMAGE:7747376 3', mRNA sequence
gi|59250194|gnl|dbEST|27757224|gb|D 94.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001190614	Natera, Inc.	no assertion criteria provided	Pathogenic (May 20, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001190614

Natera, Inc.

no assertion criteria provided

Pathogenic
(May 20, 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., SCV001190614.1

#	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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