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NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro) AND CFTR-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 23, 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:
RCV002228162.3

Allele description [Variation Report for NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)]

NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)

Gene:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)
HGVS:
  • NC_000007.14:g.117664728T>C
  • NG_016465.4:g.203945T>C
  • NM_000492.4:c.4004T>CMANE SELECT
  • NP_000483.3:p.Leu1335Pro
  • NP_000483.3:p.Leu1335Pro
  • LRG_663t1:c.4004T>C
  • LRG_663:g.203945T>C
  • LRG_663p1:p.Leu1335Pro
  • NC_000007.13:g.117304782T>C
  • NM_000492.3:c.4004T>C
Protein change:
L1335P
Links:
dbSNP: rs397508658
NCBI 1000 Genomes Browser:
rs397508658
Molecular consequence:
  • NM_000492.4:c.4004T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CFTR-related disorder (CFTR-RD)
Synonyms:
CFTR-related disorders; CFTR-related condition
Identifiers:
MedGen: C5924204

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002507409Genome Diagnostics Laboratory, The Hospital for Sick Children
no assertion criteria provided
Pathogenic
(Jul 23, 2019) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Genome Diagnostics Laboratory, The Hospital for Sick Children, SCV002507409.1

#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: Nov 24, 2024