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NM_000492.4(CFTR):c.3851_3852dup (p.Ala1285fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 23, 2016)
Last evaluated:
Oct 27, 2016
Accession:
VCV000371605.1
Variation ID:
371605
Description:
2bp duplication
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NM_000492.4(CFTR):c.3851_3852dup (p.Ala1285fs)

Allele ID
357579
Variant type
Duplication
Variant length
2 bp
Cytogenetic location
7q31.2
Genomic location
7: 117642569-117642570 (GRCh38) GRCh38 UCSC
7: 117282623-117282624 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_663:g.181788_181789dup
NC_000007.13:g.117282625_117282626dup
NC_000007.14:g.117642571_117642572dup
... more HGVS
Protein change
A1285fs
Other names
-
Canonical SPDI
NC_000007.14:117642569:AAA:AAAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16041138
dbSNP: rs1057517404
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 Oct 27, 2016 RCV000412356.1
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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
(Oct 27, 2016)
criteria provided, single submitter
Method: clinical testing
Cystic fibrosis
Allele origin: unknown
Counsyl
Accession: SCV000487225.1
Submitted: (Nov 23, 2016)
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 rs1057517404...

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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