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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:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001714229Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 11, 2021) 		germlineclinical testing

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

SCV002019224Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 7, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)

Description

PVS1, PM2, PP5, PM3_Strong

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Revvity Omics, Revvity, SCV002019224.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024