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NM_000352.6(ABCC8):c.279C>A (p.Ile93=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 27, 2020
Accession:
VCV000285375.5
Variation ID:
285375
Description:
single nucleotide variant
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NM_000352.6(ABCC8):c.279C>A (p.Ile93=)

Allele ID
269612
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17474897 (GRCh38) GRCh38 UCSC
11: 17496444 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.17496444G>T
NC_000011.10:g.17474897G>T
NM_000352.6:c.279C>A MANE Select NP_000343.2:p.Ile93= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:17474896:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
1000 Genomes Project 0.00060
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA5903935
dbSNP: rs550990673
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 27, 2020 RCV000376852.4
Hereditary hyperinsulinism
Uncertain significance 1 no assertion criteria provided Apr 10, 2020 RCV001276288.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABCC8 - - GRCh38
GRCh37
997 1064

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 22, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000338369.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Nov 27, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001013826.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Apr 10, 2020)
no assertion criteria provided
Method: clinical testing
Hereditary hyperinsulinism
Allele origin: germline
Natera, Inc.
Accession: SCV001462397.1
Submitted: (Dec 28, 2020)
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ABCC8 - - - -

Text-mined citations for rs550990673...

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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 Jun 14, 2021