NM_015665.6(AAAS):c.1087G>A (p.Gly363Ser) AND Glucocorticoid deficiency with achalasia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 23, 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:: RCV003153228.1

Allele description [Variation Report for NM_015665.6(AAAS):c.1087G>A (p.Gly363Ser)]

NM_015665.6(AAAS):c.1087G>A (p.Gly363Ser)

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.1087G>A (p.Gly363Ser)

HGVS:

NC_000012.12:g.53308725C>T
NG_016775.1:g.17904G>A
NM_001173466.2:c.988G>A
NM_015665.6:c.1087G>AMANE SELECT
NP_001166937.1:p.Gly330Ser
NP_056480.1:p.Gly363Ser
NC_000012.11:g.53702509C>T

Protein change:

G330S

Molecular consequence:

NM_001173466.2:c.988G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015665.6:c.1087G>A - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003842144	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 23, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003842144

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 23, 2023)

unknown

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From 3billion, SCV003842144.1

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

Description

The variant is not observed in the gnomAD v2.1.1 dataset. In silico tools predict the variant to alter splicing and produce an abnormal transcript (SpliceAI: 0.72). Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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

Last Updated: Mar 26, 2023

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