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NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs) 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:
RCV001831766.1

Allele description [Variation Report for NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs)]

NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs)

Genes:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
LOC111674472:DNase I hypersensitive sites in introns 16 and 17a of CFTR [Gene]
Variant type:
Microsatellite
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs)
Other names:
3132delTG
HGVS:
  • NC_000007.14:g.117610530TG[1]
  • NG_016465.4:g.149747TG[1]
  • NG_056128.2:g.3584TG[1]
  • NM_000492.4:c.3002_3003delMANE SELECT
  • NP_000483.3:p.Val1001fs
  • LRG_663:g.149747TG[1]
  • NC_000007.13:g.117250584TG[1]
  • NM_000492.3:c.3002_3003del
  • NM_000492.3:c.3002_3003delTG
  • p.Val1001AspfsX45
Protein change:
V1001fs
Links:
dbSNP: rs397508477
NCBI 1000 Genomes Browser:
rs397508477
Molecular consequence:
  • NM_000492.4:c.3002_3003del - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002083576Natera, Inc.
no assertion criteria provided
Pathogenic
(Mar 17, 2017) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002083576.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024