U.S. flag

An official website of the United States government

NM_003977.4(AIP):c.100-18C>T AND Pituitary adenoma 5, multiple types

Germline classification:
Benign (1 submission)
Last evaluated:
May 10, 2023
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:
RCV003233033.2

Allele description [Variation Report for NM_003977.4(AIP):c.100-18C>T]

NM_003977.4(AIP):c.100-18C>T

Genes:
LOC130006206:ATAC-STARR-seq lymphoblastoid active region 5107 [Gene]
AIP:aryl hydrocarbon receptor interacting protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_003977.4(AIP):c.100-18C>T
HGVS:
  • NC_000011.10:g.67486988C>T
  • NG_008969.1:g.8955C>T
  • NM_001302959.2:c.-78-18C>T
  • NM_001302960.2:c.100-18C>T
  • NM_003977.4:c.100-18C>TMANE SELECT
  • LRG_460t1:c.100-18C>T
  • LRG_460:g.8955C>T
  • NC_000011.9:g.67254459C>T
  • NM_003977.2:c.100-18C>T
Links:
dbSNP: rs202156895
NCBI 1000 Genomes Browser:
rs202156895
Molecular consequence:
  • NM_001302959.2:c.-78-18C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001302960.2:c.100-18C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003977.4:c.100-18C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Pituitary adenoma 5, multiple types
Identifiers:
MONDO: MONDO:0054601; MedGen: C4539685; OMIM: 617540

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003930420Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS)
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(May 10, 2023)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), SCV003930420.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024