NM_000383.4(AIRE):c.463+2T>C AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 12, 2023
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:: RCV000413548.3

Allele description [Variation Report for NM_000383.4(AIRE):c.463+2T>C]

NM_000383.4(AIRE):c.463+2T>C

Gene:

AIRE:autoimmune regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

NM_000383.4(AIRE):c.463+2T>C

HGVS:

NC_000021.9:g.44287135T>C
NG_009556.1:g.6256T>C
NM_000383.4:c.463+2T>CMANE SELECT
LRG_18t1:c.463+2T>C
LRG_18:g.6256T>C
NC_000021.8:g.45707018T>C
NM_000383.2:c.463+2T>C
NM_000383.3:c.463+2T>C

Links:

dbSNP: rs786204478

NCBI 1000 Genomes Browser:

rs786204478

Molecular consequence:

NM_000383.4:c.463+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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RecName: Full=Zinc finger protein 10; AltName: Full=Zinc finger protein KOX1
RecName: Full=Zinc finger protein 10; AltName: Full=Zinc finger protein KOX1
gi|55977778|sp|P21506.3|ZNF10_HUMAN

Protein
RecName: Full=Deleted in azoospermia-like; AltName: Full=DAZ homolog; AltName: F...
RecName: Full=Deleted in azoospermia-like; AltName: Full=DAZ homolog; AltName: Full=DAZ-like autosomal; AltName: Full=Deleted in azoospermia-like 1; AltName: Full=SPGY-like-autosomal
gi|27805453|sp|Q92904.1|DAZL_HUMAN

Protein
ZP2 zona pellucida glycoprotein 2 [Homo sapiens]
ZP2 zona pellucida glycoprotein 2 [Homo sapiens]
Gene ID:7783

Gene
7783[uid] AND (alive[prop]) (1)
Gene
hscC chaperone protein HscC [Escherichia coli str. K-12 substr. MG1655]
hscC chaperone protein HscC [Escherichia coli str. K-12 substr. MG1655]
Gene ID:945218

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000490397	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Oct 12, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000490397

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Oct 12, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000490397.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 11524731, 9921903, 17220063, 35753512)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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