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NM_000246.3(CIITA):c.2442C>T (p.His814=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 6, 2020
Accession:
VCV000755870.4
Variation ID:
755870
Description:
single nucleotide variant
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NM_000246.3(CIITA):c.2442C>T (p.His814=)

Allele ID
770482
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.13
Genomic location
16: 10907934 (GRCh38) GRCh38 UCSC
16: 11001791 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.10907934C>T
NC_000016.9:g.11001791C>T
NM_000246.3:c.2442C>T NP_000237.2:p.His814= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:10907933:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00005
The Genome Aggregation Database (gnomAD), exomes 0.00003
Exome Aggregation Consortium (ExAC) 0.00004
Links
dbSNP: rs746490057
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 6, 2020 RCV000933328.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CIITA - - GRCh38
GRCh37
736 763

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Bare lymphocyte syndrome 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001276975.1
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)
Likely benign
(Nov 06, 2020)
criteria provided, single submitter
Method: clinical testing
Bare lymphocyte syndrome 2
Allele origin: germline
Invitae
Accession: SCV001079025.3
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 rs746490057...

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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 06, 2021