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NM_000492.4(CFTR):c.1066_1072delinsA (p.Trp356_Val358delinsIle) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 29, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000180170.4

Allele description [Variation Report for NM_000492.4(CFTR):c.1066_1072delinsA (p.Trp356_Val358delinsIle)]

NM_000492.4(CFTR):c.1066_1072delinsA (p.Trp356_Val358delinsIle)

Gene:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.1066_1072delinsA (p.Trp356_Val358delinsIle)
HGVS:
  • NC_000007.14:g.117540296_117540302delinsA
  • NG_016465.4:g.79513_79519delinsA
  • NM_000492.4:c.1066_1072delinsAMANE SELECT
  • NP_000483.3:p.Trp356_Val358delinsIle
  • LRG_663:g.79513_79519delinsA
  • NC_000007.13:g.117180350_117180356delinsA
Links:
dbSNP: rs797044788
NCBI 1000 Genomes Browser:
rs797044788
Molecular consequence:
  • NM_000492.4:c.1066_1072delinsA - inframe_indel - [Sequence Ontology: SO:0001820]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000232562Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(May 29, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000232562.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 1, 2023