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NM_000492.3(CFTR):c.2895C>A (p.Asn965Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Apr 24, 2019)
Last evaluated:
Oct 4, 2018
Accession:
VCV000594285.2
Variation ID:
594285
Description:
single nucleotide variant
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NM_000492.3(CFTR):c.2895C>A (p.Asn965Lys)

Allele ID
585348
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117603769 (GRCh38) GRCh38 UCSC
7: 117243823 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.117243823C>A
NC_000007.14:g.117603769C>A
NM_000492.3:c.2895C>A NP_000483.3:p.Asn965Lys missense
... more HGVS
Protein change
N965K
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00003
Exome Aggregation Consortium (ExAC) 0.00004
Links
dbSNP: rs779569793
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Sep 29, 2017 RCV000729543.1
Uncertain significance 1 criteria provided, single submitter Oct 4, 2018 RCV000781279.1
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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
1360 1912

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 29, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000857215.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...
Uncertain significance
(Oct 04, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Integrated Genetics/Laboratory Corporation of America
Accession: SCV000919192.1
Submitted: (Apr 24, 2019)
Evidence details
Comment:
Variant summary: CFTR c.2895C>A (p.Asn965Lys) results in a non-conservative amino acid change located in the ABC transporter type 1, transmembrane domain of the encoded protein ... (more)

Citations for this variant

Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR - - - -

Record last updated Jan 18, 2020