NM_001371928.1(AHDC1):c.1169del (p.Pro390fs) AND AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome - ClinVar

NM_001371928.1(AHDC1):c.1169del (p.Pro390fs) AND AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000844951.1

Allele description [Variation Report for NM_001371928.1(AHDC1):c.1169del (p.Pro390fs)]

NM_001371928.1(AHDC1):c.1169del (p.Pro390fs)

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.1169del (p.Pro390fs)

HGVS:

NC_000001.11:g.27550948del
NG_034158.1:g.57548del
NM_001029882.3:c.1169del
NM_001371928.1:c.1169delMANE SELECT
NP_001025053.1:p.Pro390fs
NP_001358857.1:p.Pro390fs
NC_000001.10:g.27877459del
NM_001029882.2:c.1169delC

Protein change:

P390fs

Links:

dbSNP: rs1553159575

NCBI 1000 Genomes Browser:

rs1553159575

Molecular consequence:

NM_001029882.3:c.1169del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001371928.1:c.1169del - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000986775	GenomeConnect, ClinGen	no classification provided	not provided	unknown	phenotyping only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000986775

GenomeConnect, ClinGen

no classification provided

not provided

unknown

phenotyping only

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	phenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000986775.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	phenotyping only	not provided

Description

Variant interpretted as Likely pathogenic and reported on 05/14/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Jul 29, 2023

ClinVar

Relating variation to medicine