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NM_000246.4(CIITA):c.5G>A (p.Arg2His) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 8, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002538172.2

Allele description [Variation Report for NM_000246.4(CIITA):c.5G>A (p.Arg2His)]

NM_000246.4(CIITA):c.5G>A (p.Arg2His)

Gene:
CIITA:class II major histocompatibility complex transactivator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.13
Genomic location:
Preferred name:
NM_000246.4(CIITA):c.5G>A (p.Arg2His)
HGVS:
  • NC_000016.10:g.10877335G>A
  • NG_009628.1:g.5138G>A
  • NM_000246.4:c.5G>AMANE SELECT
  • NM_001286402.1:c.5G>A
  • NM_001286403.2:c.5G>A
  • NM_001379330.1:c.5G>A
  • NM_001379331.1:c.5G>A
  • NM_001379332.1:c.5G>A
  • NM_001379333.1:c.5G>A
  • NP_000237.2:p.Arg2His
  • NP_000237.2:p.Arg2His
  • NP_001273331.1:p.Arg2His
  • NP_001273332.1:p.Arg2His
  • NP_001366259.1:p.Arg2His
  • NP_001366260.1:p.Arg2His
  • NP_001366261.1:p.Arg2His
  • NP_001366262.1:p.Arg2His
  • LRG_49t1:c.5G>A
  • LRG_49:g.5138G>A
  • LRG_49p1:p.Arg2His
  • NC_000016.9:g.10971192G>A
  • NM_000246.3:c.5G>A
  • NR_104444.2:n.134G>A
Protein change:
R2H
Links:
dbSNP: rs755048657
NCBI 1000 Genomes Browser:
rs755048657
Molecular consequence:
  • NM_000246.4:c.5G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286402.1:c.5G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286403.2:c.5G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379330.1:c.5G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379331.1:c.5G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379332.1:c.5G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379333.1:c.5G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104444.2:n.134G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003682507Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 8, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003682507.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.5G>A (p.R2H) alteration is located in exon 1 (coding exon 1) of the CIITA gene. This alteration results from a G to A substitution at nucleotide position 5, causing the arginine (R) at amino acid position 2 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024