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NM_054027.6(ANKH):c.*5281del

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000351406.2
Variation ID:
351406
Description:
1bp deletion
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NM_054027.6(ANKH):c.*5281del

Allele ID
301751
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 14705916 (GRCh38) GRCh38 UCSC
5: 14706025 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1362:g.170870del
LRG_1362t1:c.*5281del
NC_000005.10:g.14705917del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:14705915:TT:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.04473 (T)

Allele frequency
-
Links
ClinGen: CA10623156
dbSNP: rs34917282
VarSome
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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 Jun 14, 2016 RCV000346904.2
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000403232.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ANKH - - GRCh38
GRCh37
115 405
OTULIN - - GRCh38
GRCh37
25 318

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Chondrocalcinosis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000453519.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Craniometaphyseal Dysplasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000453518.2
Submitted: (Oct 18, 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 rs34917282...

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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 Oct 21, 2021