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NM_000037.4(ANK1):c.499G>C (p.Gly167Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Feb 20, 2020)
Last evaluated:
May 21, 2019
Accession:
VCV000812032.2
Variation ID:
812032
Description:
single nucleotide variant
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NM_000037.4(ANK1):c.499G>C (p.Gly167Arg)

Allele ID
799548
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p11.21
Genomic location
8: 41725874 (GRCh38) GRCh38 UCSC
8: 41583392 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.41583392C>G
NC_000008.11:g.41725874C>G
NM_000037.4:c.499G>C MANE Select NP_000028.3:p.Gly167Arg missense
... more HGVS
Protein change
G167R, G200R
Other names
-
Canonical SPDI
NC_000008.11:41725873:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00014
1000 Genomes Project 0.00040
Links
dbSNP: rs201024919
Varsome
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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 Jan 17, 2018 RCV001163455.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations May 21, 2019 RCV001002597.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ANK1 - - GRCh38
GRCh37
448 493

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 21, 2019)
criteria provided, single submitter
Method: clinical testing
Spherocytosis type 1
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001160570.1
Submitted: (Aug 05, 2019)
Evidence details
Uncertain significance
(Jan 17, 2018)
criteria provided, single submitter
Method: clinical testing
Spherocytosis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001325497.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 15, 2018)
criteria provided, single submitter
Method: clinical testing
Spherocytosis type 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001325498.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)

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 rs201024919...

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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 06, 2020