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NM_138422.4(ADAT3):c.820dup (p.Gln274fs) AND Intellectual disability-strabismus syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 1, 2019
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:
RCV001262927.1

Allele description [Variation Report for NM_138422.4(ADAT3):c.820dup (p.Gln274fs)]

NM_138422.4(ADAT3):c.820dup (p.Gln274fs)

Genes:
ADAT3:adenosine deaminase tRNA specific 3 [Gene - OMIM - HGNC]
SCAMP4:secretory carrier membrane protein 4 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_138422.4(ADAT3):c.820dup (p.Gln274fs)
HGVS:
  • NC_000019.10:g.1912867dup
  • NG_051211.1:g.12654dup
  • NM_001329533.2:c.772dup
  • NM_001329539.2:c.-125-4827dup
  • NM_001329540.2:c.-41-2112dup
  • NM_079834.4:c.-41-2112dupMANE SELECT
  • NM_138422.4:c.820dupMANE SELECT
  • NP_001316462.1:p.Gln258fs
  • NP_612431.2:p.Gln274fs
  • NC_000019.9:g.1912866dup
  • NM_138422.3:c.820dup
Protein change:
Q258fs
Links:
dbSNP: rs775575809
NCBI 1000 Genomes Browser:
rs775575809
Molecular consequence:
  • NM_001329533.2:c.772dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_138422.4:c.820dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001329539.2:c.-125-4827dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001329540.2:c.-41-2112dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_079834.4:c.-41-2112dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Intellectual disability-strabismus syndrome (NEDBGF)
Synonyms:
NEURODEVELOPMENTAL DISORDER WITH BRAIN ABNORMALITIES, POOR GROWTH, AND DYSMORPHIC FACIES
Identifiers:
MONDO: MONDO:0014119; MedGen: C4750838; Orphanet: 363528; OMIM: 615286

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001440984Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 1, 2019) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical 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 Institute of Human Genetics, University of Leipzig Medical Center, SCV001440984.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024