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NM_000492.4(CFTR):c.4035_4038dup (p.Ser1347fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Jan 4, 2017
Accession:
VCV000550233.1
Variation ID:
550233
Description:
4bp duplication
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NM_000492.4(CFTR):c.4035_4038dup (p.Ser1347fs)

Allele ID
544622
Variant type
Duplication
Variant length
4 bp
Cytogenetic location
7q31.2
Genomic location
7: 117664758-117664759 (GRCh38) GRCh38 UCSC
7: 117304812-117304813 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000492.3:c.4035_4038dupCCTA frameshift
LRG_663:g.203976_203979dup
NC_000007.13:g.117304813_117304816dup
... more HGVS
Protein change
S1347fs
Other names
-
Canonical SPDI
NC_000007.14:117664758:CCTA:CCTACCTA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1554397497
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jan 4, 2017 RCV000664926.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CFTR - - GRCh38
GRCh37
1972 2727

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 04, 2017)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: unknown
Counsyl
Accession: SCV000788963.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients. Zińôtkiewicz E PloS one 2014 PMID: 24586523

Text-mined citations for rs1554397497...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021