NM_001371928.1(AHDC1):c.1653del (p.Lys552fs) AND AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome - ClinVar

NM_001371928.1(AHDC1):c.1653del (p.Lys552fs) AND AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 24, 2021
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:: RCV003334447.2

Allele description [Variation Report for NM_001371928.1(AHDC1):c.1653del (p.Lys552fs)]

NM_001371928.1(AHDC1):c.1653del (p.Lys552fs)

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.1653del (p.Lys552fs)

Other names:

p.Lys552ArgfsTer33

HGVS:

NC_000001.11:g.27550463del
NG_034158.1:g.58032del
NM_001029882.3:c.1653del
NM_001371928.1:c.1653delMANE SELECT
NP_001025053.1:p.Lys552fs
NP_001358857.1:p.Lys552fs
NC_000001.10:g.27876974del

Protein change:

K552fs

Molecular consequence:

NM_001029882.3:c.1653del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371928.1:c.1653del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV004042692	Laboratory of Human Genetics, Universidade de São Paulo	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 24, 2021)	de novo	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

SCV004042692

Laboratory of Human Genetics, Universidade de São Paulo

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 24, 2021)

de novo

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	de novo	yes	1	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 Laboratory of Human Genetics, Universidade de São Paulo, SCV004042692.1

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

Description

PVS1, PM2, PM6 (ACMG)

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

Last Updated: Jun 23, 2024

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