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NM_054027.6(ANKH):c.258C>T (p.Ala86=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000351561.1
Variation ID:
351561
Description:
single nucleotide variant
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NM_054027.6(ANKH):c.258C>T (p.Ala86=)

Allele ID
301811
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 14769030 (GRCh38) GRCh38 UCSC
5: 14769139 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.14769030G>A
NC_000005.9:g.14769139G>A
NM_054027.6:c.258C>T NP_473368.1:p.Ala86= synonymous
NG_008273.2:g.107756C>T
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00699 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00774
1000 Genomes Project 0.00699
Exome Aggregation Consortium (ExAC) 0.00249
Trans-Omics for Precision Medicine (TOPMed) 0.00901
The Genome Aggregation Database (gnomAD), exomes 0.00213
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01076
Links
ClinGen: CA3209185
dbSNP: rs74355706
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000276410.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000333914.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ANKH - - GRCh38
GRCh37
49 254

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Chondrocalcinosis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000453820.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Craniometaphyseal Dysplasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000453821.2
Submitted: (Oct 18, 2016)
Evidence details

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 Oct 27, 2019