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NM_000492.3(CFTR):c.662C>T (p.Ala221Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 25, 2018)
Last evaluated:
Jun 15, 2017
Accession:
VCV000495955.1
Variation ID:
495955
Description:
single nucleotide variant
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NM_000492.3(CFTR):c.662C>T (p.Ala221Val)

Allele ID
487180
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.2
Genomic location
7: 117535330 (GRCh38) GRCh38 UCSC
7: 117175384 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.117175384C>T
NC_000007.14:g.117535330C>T
NM_000492.3:c.662C>T NP_000483.3:p.Ala221Val missense
... more HGVS
Protein change
A221V
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA4450795
dbSNP: rs752432390
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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 Jun 15, 2017 RCV000588100.1
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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
(Jun 15, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Integrated Genetics/Laboratory Corporation of America
Accession: SCV000697041.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The CFTR c.662C>T (p.Ala221Val) variant involves the alteration of a conserved nucleotide located in the ABC transporter type 1, transmembrane domain (InterPro). 2/4 ... (more)

Citations for this variant

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

Record last updated Jan 22, 2020