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NM_000492.4(CFTR):c.1415dup (p.Met472fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Feb 12, 2018
Accession:
VCV000556633.1
Variation ID:
556633
Description:
1bp duplication
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NM_000492.4(CFTR):c.1415dup (p.Met472fs)

Allele ID
544510
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117559485-117559486 (GRCh38) GRCh38 UCSC
7: 117199539-117199540 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_663:g.98703dup
NM_000492.3:c.1415dupT
NC_000007.13:g.117199540dup
... more HGVS
Protein change
M472fs
Other names
-
Canonical SPDI
NC_000007.14:117559485:T:TT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1554384343
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 Feb 12, 2018 RCV000672662.1
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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
1974 2730
CFTR-AS1 - - - GRCh38 - 286

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 12, 2018)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: unknown
Counsyl
Accession: SCV000797789.1
Submitted: (Jul 10, 2018)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1554384343...

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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 Nov 27, 2021