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NM_003977.4(AIP):c.100-1025_279+357del AND Somatotroph adenoma

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 21, 2012
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:
RCV000034060.3

Allele description [Variation Report for NM_003977.4(AIP):c.100-1025_279+357del]

NM_003977.4(AIP):c.100-1025_279+357del

Genes:
LOC130006206:ATAC-STARR-seq lymphoblastoid active region 5107 [Gene]
LOC130006207:ATAC-STARR-seq lymphoblastoid active region 5108 [Gene]
AIP:aryl hydrocarbon receptor interacting protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_003977.4(AIP):c.100-1025_279+357del
HGVS:
  • NC_000011.10:g.67485981_67487542del
  • NG_008969.1:g.7948_9509del
  • NM_001302959.2:c.-78-1025_102+357del
  • NM_001302960.2:c.100-1025_279+357del
  • NM_003977.4:c.100-1025_279+357delMANE SELECT
  • LRG_460:g.7948_9509del
  • NC_000011.9:g.67253452_67255013del
  • NM_003977.2:c.100-1025_279+357del(ex2del)
Note:
deletion of exon 2 from AIP plus flanking intronic sequences
Links:
dbVar: nssv3761598; dbVar: nsv1067893
Molecular consequence:
  • NM_001302959.2:c.-78-1025_102+357del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001302959.2:c.-78-1025_102+357del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001302960.2:c.100-1025_279+357del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_003977.4:c.100-1025_279+357del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001302959.2:c.-78-1025_102+357del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001302960.2:c.100-1025_279+357del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_003977.4:c.100-1025_279+357del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Somatotroph adenoma (PITA1)
Synonyms:
ISOLATED FAMILIAL SOMATOTROPINOMA; SOMATOTROPHINOMA, FAMILIAL; Pituitary tumor, growth hormone-secreting, somatic; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007052; MedGen: C4538355; Orphanet: 314777; Orphanet: 963; OMIM: 102200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000057990GeneReviews
no assertion criteria provided
probable-pathogenic
(Jun 21, 2012)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000057990.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Oct 14, 2023