NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 7, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001508220.8

Allele description [Variation Report for NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer)]

NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer)

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.1029del (p.Phe342_Cys343insTer)

Other names:

1161delC

HGVS:

NC_000007.14:g.117540259del
NG_016465.4:g.79476del
NM_000492.4:c.1029delMANE SELECT
NP_000483.3:p.Phe342_Cys343insTer
LRG_663t1:c.1029del
LRG_663:g.79476del
NC_000007.13:g.117180313del
NM_000492.3:c.1029del
NM_000492.3:c.1029delC
NM_000492.4:c.1029delCMANE SELECT
p.Cys343*
p.Cys343X

Links:

dbSNP: rs121908774

NCBI 1000 Genomes Browser:

rs121908774

Molecular consequence:

NM_000492.4:c.1029del - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001714229	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 11, 2021)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 31126253, 22658665, 9482579, 25741868
SCV002019224	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 7, 2022)	germline	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

SCV001714229

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 11, 2021)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV002019224

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 7, 2022)

germline

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	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka.

Indika NLR, Vidanapathirana DM, Dilanthi HW, Kularatnam GAM, Chandrasiri NDPD, Jasinge E.

BMC Med Genet. 2019 May 24;20(1):89. doi: 10.1186/s12881-019-0815-x.

PubMed [citation]

PMID:: 31126253
PMCID:: PMC6534844

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.

Ooi CY, Durie PR.

J Cyst Fibros. 2012 Sep;11(5):355-62. doi: 10.1016/j.jcf.2012.05.001. Epub 2012 Jun 2. Review.

PubMed [citation]

PMID:: 22658665

See all PubMed Citations (4)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV001714229.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (4)

Description

PVS1, PM2, PP5, PM3_Strong

#	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		1	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV002019224.3

#	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	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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