NM_015665.6(AAAS):c.1087+1G>A AND Glucocorticoid deficiency with achalasia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2001
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000005349.6

Allele description [Variation Report for NM_015665.6(AAAS):c.1087+1G>A]

NM_015665.6(AAAS):c.1087+1G>A

Gene:

AAAS:aladin WD repeat nucleoporin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

Preferred name:

NM_015665.6(AAAS):c.1087+1G>A

HGVS:

NC_000012.12:g.53308724C>T
NG_016775.1:g.17905G>A
NM_001173466.2:c.988+1G>A
NM_015665.6:c.1087+1G>AMANE SELECT
NC_000012.11:g.53702508C>T
NM_015665.5:c.1087+1G>A

Note:

ClinGen staff contributed the HGVS expression for this variant.

Nucleotide change:

IVS11DS, G-A, +1

Links:

OMIM: 605378.0008; dbSNP: rs1035139364

NCBI 1000 Genomes Browser:

rs1035139364

Molecular consequence:

NM_001173466.2:c.988+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_015665.6:c.1087+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Glucocorticoid deficiency with achalasia (AAAS)
Synonyms:: AAA syndrome; Alacrima-achalasia-adrenal insufficiency neurologic disorder; Allgrove syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009279; MedGen: C0271742; Orphanet: 869; OMIM: 231550

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Tmem170 transmembrane protein 170 [Mus musculus]
Tmem170 transmembrane protein 170 [Mus musculus]
Gene ID:66817

Gene
66817[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025527	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2001)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000025527

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2001)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin.

Sandrini F, Farmakidis C, Kirschner LS, Wu SM, Tullio-Pelet A, Lyonnet S, Metzger DL, Bourdony CJ, Tiosano D, Chan WY, Stratakis CA.

J Clin Endocrinol Metab. 2001 Nov;86(11):5433-7.

PubMed [citation]

PMID:: 11701718

Details of each submission

From OMIM, SCV000025527.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a Puerto Rican family with triple-A syndrome (AAAS; 231550), Sandrini et al. (2001) identified a donor splice mutation in exon 11 of the AAAS gene: IVS11+1G-A. The proband was a compound heterozygous for this mutation and IVS14+1G-A (605378.0005).

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

Last Updated: Sep 29, 2024

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