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NM_001171.5(ABCC6):c.*17G>A

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 20, 2018)
Accession:
VCV000433369.1
Variation ID:
433369
Description:
single nucleotide variant
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NM_001171.5(ABCC6):c.*17G>A

Allele ID
426779
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.11
Genomic location
16: 16150116 (GRCh38) GRCh38 UCSC
16: 16243973 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.16150116C>T
NC_000016.9:g.16243973C>T
NM_001171.5:c.*17G>A 3 prime UTR
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.06629 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.05163
Trans-Omics for Precision Medicine (TOPMed) 0.05635
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.05694
Exome Aggregation Consortium (ExAC) 0.07013
1000 Genomes Project 0.06629
The Genome Aggregation Database (gnomAD), exomes 0.06633
Links
ClinGen: CA7925144
dbSNP: rs3902401
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter - RCV000499240.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABCC6 - - GRCh38
GRCh38
GRCh37
496 771

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: research
Pseudoxanthoma elasticum
Allele origin: germline
PXE International
Accession: SCV000589128.2
Submitted: (Aug 20, 2018)
Evidence details

Citations for this variant

Title Author Journal Year Link
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Le Saux O Nature genetics 2000 PMID: 10835642

Record last updated Oct 27, 2019