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NM_015100.4(POGZ):c.2546-20T>A AND Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 29, 2021
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:
RCV001526438.2

Allele description [Variation Report for NM_015100.4(POGZ):c.2546-20T>A]

NM_015100.4(POGZ):c.2546-20T>A

Gene:
POGZ:pogo transposable element derived with ZNF domain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_015100.4(POGZ):c.2546-20T>A
HGVS:
  • NC_000001.11:g.151406651A>T
  • NG_046601.1:g.57815T>A
  • NM_001194937.2:c.2519-20T>A
  • NM_001194938.2:c.2360-20T>A
  • NM_015100.4:c.2546-20T>AMANE SELECT
  • NM_145796.4:c.2261-20T>A
  • NM_207171.2:c.2387-20T>A
  • NC_000001.10:g.151379127A>T
  • NM_015100.3:c.2546-20T>A
Links:
dbSNP: rs2102153141
NCBI 1000 Genomes Browser:
rs2102153141
Molecular consequence:
  • NM_001194937.2:c.2519-20T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001194938.2:c.2360-20T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015100.4:c.2546-20T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_145796.4:c.2261-20T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_207171.2:c.2387-20T>A - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071] - Comment(s)
Observations:
1

Condition(s)

Name:
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Identifiers:
MONDO: MONDO:0014606; MedGen: C4225351; OMIM: 616364

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001736845Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Mar 29, 2021)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasians,African Americande novoyes11not 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 Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV001736845.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasians,African American1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providedbloodnot provided1not provided1not provided

Last Updated: Dec 24, 2023