NM_001282531.3(ADNP):c.2318dup (p.Tyr774fs) AND ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder - ClinVar

This record was updated by the submitter. Please see the current version.

NM_001282531.3(ADNP):c.2318dup (p.Tyr774fs) AND ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 8, 2016
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:: RCV000414810.1

Allele description

NM_001282531.3(ADNP):c.2318dup (p.Tyr774fs)

Gene:

ADNP:activity dependent neuroprotector homeobox [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

20q13.13

Genomic location:

Preferred name:

NM_001282531.3(ADNP):c.2318dup (p.Tyr774fs)

HGVS:

NC_000020.11:g.50892398dup
NG_034200.1:g.43595dup
NM_001282531.3:c.2318dupMANE SELECT
NM_001282532.2:c.2318dup
NM_001347511.2:c.2318dup
NM_015339.5:c.2318dup
NM_181442.4:c.2318dup
NP_001269460.1:p.Tyr774fs
NP_001269461.1:p.Tyr774fs
NP_001334440.1:p.Tyr774fs
NP_056154.1:p.Tyr774fs
NP_852107.1:p.Tyr774fs
NC_000020.10:g.49508935dup

Protein change:

Y774fs

Links:

dbSNP: rs1057518978

NCBI 1000 Genomes Browser:

rs1057518978

Molecular consequence:

NM_001282531.3:c.2318dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282532.2:c.2318dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001347511.2:c.2318dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015339.5:c.2318dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181442.4:c.2318dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Synonyms:: ADNP-Related Disorders; Helsmoortel-Van der Aa Syndrome
Identifiers:: MONDO: MONDO:0014379; MedGen: C4014538; Orphanet: 404448; OMIM: 615873

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000493064	HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-HudsonAlpha	criteria provided, single submitter (HA_assertions_20161101)	Pathogenic (Dec 8, 2016)	de novo	research	HA_assertions_20161101.pdf

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000493064

HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-HudsonAlpha

criteria provided, single submitter

(HA_assertions_20161101)

Pathogenic
(Dec 8, 2016)

de novo

research

HA_assertions_20161101.pdf

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	research

Details of each submission

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-HudsonAlpha, SCV000493064.2

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

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

Last Updated: Apr 23, 2022

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