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GRCh38/hg38 12q24.31(chr12:123141008-123578625) AND Autism spectrum disorder

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003883408.1

Allele description [Variation Report for GRCh38/hg38 12q24.31(chr12:123141008-123578625)]

GRCh38/hg38 12q24.31(chr12:123141008-123578625)

Genes:
  • LOC130009084:ATAC-STARR-seq lymphoblastoid active region 7253 [Gene]
  • LOC130009085:ATAC-STARR-seq lymphoblastoid active region 7254 [Gene]
  • LOC130009086:ATAC-STARR-seq lymphoblastoid active region 7255 [Gene]
  • LOC130009087:ATAC-STARR-seq lymphoblastoid active region 7256 [Gene]
  • LOC130009088:ATAC-STARR-seq lymphoblastoid active region 7257 [Gene]
  • LOC130009089:ATAC-STARR-seq lymphoblastoid active region 7258 [Gene]
  • LOC130009097:ATAC-STARR-seq lymphoblastoid active region 7260 [Gene]
  • LOC130009099:ATAC-STARR-seq lymphoblastoid active region 7262 [Gene]
  • LOC130009102:ATAC-STARR-seq lymphoblastoid active region 7263 [Gene]
  • LOC130009103:ATAC-STARR-seq lymphoblastoid active region 7264 [Gene]
  • LOC130009104:ATAC-STARR-seq lymphoblastoid active region 7265 [Gene]
  • LOC130009105:ATAC-STARR-seq lymphoblastoid active region 7266 [Gene]
  • LOC130009106:ATAC-STARR-seq lymphoblastoid active region 7267 [Gene]
  • LOC130009107:ATAC-STARR-seq lymphoblastoid active region 7268 [Gene]
  • LOC130009108:ATAC-STARR-seq lymphoblastoid active region 7269 [Gene]
  • LOC130009080:ATAC-STARR-seq lymphoblastoid silent region 5028 [Gene]
  • LOC130009081:ATAC-STARR-seq lymphoblastoid silent region 5029 [Gene]
  • LOC130009082:ATAC-STARR-seq lymphoblastoid silent region 5030 [Gene]
  • LOC130009083:ATAC-STARR-seq lymphoblastoid silent region 5031 [Gene]
  • LOC130009090:ATAC-STARR-seq lymphoblastoid silent region 5032 [Gene]
  • LOC130009091:ATAC-STARR-seq lymphoblastoid silent region 5033 [Gene]
  • LOC130009092:ATAC-STARR-seq lymphoblastoid silent region 5036 [Gene]
  • LOC130009093:ATAC-STARR-seq lymphoblastoid silent region 5037 [Gene]
  • LOC130009094:ATAC-STARR-seq lymphoblastoid silent region 5038 [Gene]
  • LOC130009095:ATAC-STARR-seq lymphoblastoid silent region 5039 [Gene]
  • LOC130009096:ATAC-STARR-seq lymphoblastoid silent region 5040 [Gene]
  • LOC130009098:ATAC-STARR-seq lymphoblastoid silent region 5041 [Gene]
  • LOC130009100:ATAC-STARR-seq lymphoblastoid silent region 5042 [Gene]
  • LOC130009101:ATAC-STARR-seq lymphoblastoid silent region 5043 [Gene]
  • LOC130009109:ATAC-STARR-seq lymphoblastoid silent region 5045 [Gene]
  • LOC130009110:ATAC-STARR-seq lymphoblastoid silent region 5046 [Gene]
  • MPHOSPH9:M-phase phosphoprotein 9 [Gene - OMIM - HGNC]
  • LOC129390584:MPRA-validated peak2026 silencer [Gene]
  • RILPL1:Rab interacting lysosomal protein like 1 [Gene - OMIM - HGNC]
  • RILPL2:Rab interacting lysosomal protein like 2 [Gene - OMIM - HGNC]
  • SBNO1-AS1:SBNO1 antisense RNA 1 [Gene - HGNC]
  • LOC112163534:Sharpr-MPRA regulatory region 11641 [Gene]
  • LOC124849273:Sharpr-MPRA regulatory region 13563 [Gene]
  • LOC124849272:Sharpr-MPRA regulatory region 13608 [Gene]
  • CDK2AP1:cyclin dependent kinase 2 associated protein 1 [Gene - OMIM - HGNC]
  • KMT5A:lysine methyltransferase 5A [Gene - OMIM - HGNC]
  • MIR3908:microRNA 3908 [Gene - HGNC]
  • MIR8072:microRNA 8072 [Gene - HGNC]
  • MTRFR:mitochondrial translation release factor in rescue [Gene - OMIM - HGNC]
  • PITPNM2:phosphatidylinositol transfer protein membrane associated 2 [Gene - OMIM - HGNC]
  • SNRNP35:small nuclear ribonucleoprotein U11/U12 subunit 35 [Gene - OMIM - HGNC]
  • SBNO1:strawberry notch homolog 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
12q24.31
Genomic location:
Chr12: 123141008 - 123578625 (on Assembly GRCh38)
Preferred name:
GRCh38/hg38 12q24.31(chr12:123141008-123578625)

Condition(s)

Name:
Autism spectrum disorder
Synonyms:
Autism spectrum disorders
Identifiers:
MONDO: MONDO:0005258; MeSH: D000067877; MedGen: C1510586

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004697835Genetics Department, Polish Mother's Memorial Hospital Research Institute
no assertion criteria provided
Uncertain significancede novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedresearch

Details of each submission

From Genetics Department, Polish Mother's Memorial Hospital Research Institute, SCV004697835.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 18, 2024