NM_001371928.1(AHDC1):c.1519A>T (p.Lys507Ter) AND AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome - ClinVar

NM_001371928.1(AHDC1):c.1519A>T (p.Lys507Ter) AND AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 8, 2017
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:: RCV000578263.5

Allele description [Variation Report for NM_001371928.1(AHDC1):c.1519A>T (p.Lys507Ter)]

NM_001371928.1(AHDC1):c.1519A>T (p.Lys507Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.11

Genomic location:

Preferred name:

NM_001371928.1(AHDC1):c.1519A>T (p.Lys507Ter)

HGVS:

NC_000001.11:g.27550597T>A
NG_034158.1:g.57898A>T
NM_001029882.3:c.1519A>T
NM_001371928.1:c.1519A>TMANE SELECT
NP_001025053.1:p.Lys507Ter
NP_001358857.1:p.Lys507Ter
NC_000001.10:g.27877108T>A

Protein change:

K507*

Links:

dbSNP: rs1553159383

NCBI 1000 Genomes Browser:

rs1553159383

Molecular consequence:

NM_001029882.3:c.1519A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001371928.1:c.1519A>T - nonsense - [Sequence Ontology: SO:0001587]

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

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
SCV000680140	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Sep 8, 2017)	de novo	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000680140

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Sep 8, 2017)

de novo

clinical testing

Citation Link

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	1	not provided	clinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV000680140.1

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

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

Last Updated: Jun 23, 2024

ClinVar

Relating variation to medicine