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NM_000383.4(AIRE):c.1566+8C>T

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000446817.5
Variation ID:
446817
Description:
single nucleotide variant
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NM_000383.4(AIRE):c.1566+8C>T

Allele ID
442315
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.3
Genomic location
21: 44296453 (GRCh38) GRCh38 UCSC
21: 45716336 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000021.8:g.45716336C>T
NC_000021.9:g.44296453C>T
NM_000383.4:c.1566+8C>T MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000021.9:44296452:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD) 0.00166
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00231
The Genome Aggregation Database (gnomAD), exomes 0.00221
Exome Aggregation Consortium (ExAC) 0.00230
Trans-Omics for Precision Medicine (TOPMed) 0.00214
Links
ClinGen: CA10052184
dbSNP: rs72650680
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 Dec 8, 2020 RCV000633447.4
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Aug 29, 2018 RCV000516652.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AIRE - - GRCh38
GRCh37
536 625

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 29, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000612308.1
Submitted: (Aug 17, 2017)
Evidence details
Likely benign
(Mar 01, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000728539.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Aug 29, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000918409.1
Submitted: (Apr 24, 2019)
Evidence details
Comment:
Variant summary: AIRE c.1566+8C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly … (more)
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Polyglandular autoimmune syndrome, type 1
Allele origin: germline
Invitae
Accession: SCV000754673.4
Submitted: (Jan 07, 2021)
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 rs72650680...

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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