NM_001371928.1(AHDC1):c.2030del (p.Gly677fs) AND AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome - ClinVar

NM_001371928.1(AHDC1):c.2030del (p.Gly677fs) AND AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 16, 2022
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:: RCV001269392.2

Allele description [Variation Report for NM_001371928.1(AHDC1):c.2030del (p.Gly677fs)]

NM_001371928.1(AHDC1):c.2030del (p.Gly677fs)

Gene:

AHDC1:AT-hook DNA binding motif containing 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p36.11

Genomic location:

Preferred name:

NM_001371928.1(AHDC1):c.2030del (p.Gly677fs)

HGVS:

NC_000001.11:g.27550087del
NG_034158.1:g.58409del
NM_001029882.3:c.2030del
NM_001371928.1:c.2030delMANE SELECT
NP_001025053.1:p.Gly677fs
NP_001358857.1:p.Gly677fs
NC_000001.10:g.27876598del

Protein change:

G677fs

Links:

OMIM: 615790.0004; dbSNP: rs2019449305

NCBI 1000 Genomes Browser:

rs2019449305

Molecular consequence:

NM_001029882.3:c.2030del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371928.1:c.2030del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Synonyms:: Xia-Gibbs syndrome
Identifiers:: MONDO: MONDO:0014358; MedGen: C4014419; Orphanet: 412069; OMIM: 615829

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001449158	OMIM	no assertion criteria provided	Pathogenic (Sep 16, 2022)	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

SCV001449158

OMIM

no assertion criteria provided

Pathogenic
(Sep 16, 2022)

germline

literature only

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome.

García-Acero M, Acosta J.

Mol Syndromol. 2017 Nov;8(6):308-312. doi: 10.1159/000479357. Epub 2017 Sep 8.

PubMed [citation]

PMID:: 29230160
PMCID:: PMC5701272

Details of each submission

From OMIM, SCV001449158.2

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

Description

In an 8-year-old Colombian girl with Xia-Gibbs syndrome (XIGIS; 615829), Garcia-Acero and Acosta (2017) identified a de novo 1-bp deletion (c.2030delG) in a conserved region of the AHDC1 gene, resulting in a frameshift and premature termination (Gly677AlafsTer55). The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. No truncating mutations in the AHDC1 gene were found in the dbSNP and ExAC databases. Functional studies were not performed.

#	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: Jul 29, 2023

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