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NM_001282531.3(ADNP):c.2213C>G (p.Ser738Ter) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 2, 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:
RCV000622544.2

Allele description [Variation Report for NM_001282531.3(ADNP):c.2213C>G (p.Ser738Ter)]

NM_001282531.3(ADNP):c.2213C>G (p.Ser738Ter)

Gene:
ADNP:activity dependent neuroprotector homeobox [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.13
Genomic location:
Preferred name:
NM_001282531.3(ADNP):c.2213C>G (p.Ser738Ter)
HGVS:
  • NC_000020.11:g.50892501G>C
  • NG_034200.1:g.43490C>G
  • NM_001282531.3:c.2213C>GMANE SELECT
  • NM_001282532.2:c.2213C>G
  • NM_001347511.2:c.2213C>G
  • NM_015339.5:c.2213C>G
  • NM_181442.4:c.2213C>G
  • NP_001269460.1:p.Ser738Ter
  • NP_001269461.1:p.Ser738Ter
  • NP_001334440.1:p.Ser738Ter
  • NP_056154.1:p.Ser738Ter
  • NP_852107.1:p.Ser738Ter
  • NC_000020.10:g.49509038G>C
  • NM_015339.2:c.2213C>G
Protein change:
S738*
Links:
dbSNP: rs779340209
NCBI 1000 Genomes Browser:
rs779340209
Molecular consequence:
  • NM_001282531.3:c.2213C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001282532.2:c.2213C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001347511.2:c.2213C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_015339.5:c.2213C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181442.4:c.2213C>G - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000742733Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Pathogenic
(Aug 2, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanicgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children.

Gozes I, Van Dijck A, Hacohen-Kleiman G, Grigg I, Karmon G, Giladi E, Eger M, Gabet Y, Pasmanik-Chor M, Cappuyns E, Elpeleg O, Kooy RF, Bedrosian-Sermone S.

Transl Psychiatry. 2017 Feb 21;7(2):e1043. doi: 10.1038/tp.2017.27. Erratum in: Transl Psychiatry. 2017 Jul 4;7(7):e1166. doi: 10.1038/tp.2017.128.

PubMed [citation]
PMID:
28221363
PMCID:
PMC5438031

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.

Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Annerén G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, et al.

Nat Genet. 2014 Apr;46(4):380-4. doi: 10.1038/ng.2899. Epub 2014 Feb 16.

PubMed [citation]
PMID:
24531329
PMCID:
PMC3990853

Details of each submission

From Ambry Genetics, SCV000742733.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024