NM_003977.4(AIP):c.166C>T (p.Arg56Cys) AND Somatotroph adenoma

Clinical significance:Uncertain significance (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001102833.1

Allele description [Variation Report for NM_003977.4(AIP):c.166C>T (p.Arg56Cys)]

NM_003977.4(AIP):c.166C>T (p.Arg56Cys)

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.166C>T (p.Arg56Cys)
HGVS:
  • NC_000011.10:g.67487072C>T
  • NG_008969.1:g.9039C>T
  • NM_001302959.2:c.-12C>T
  • NM_001302960.2:c.166C>T
  • NM_003977.4:c.166C>TMANE SELECT
  • NP_001289889.1:p.Arg56Cys
  • NP_003968.3:p.Arg56Cys
  • LRG_460t1:c.166C>T
  • LRG_460:g.9039C>T
  • NC_000011.9:g.67254543C>T
  • NM_003977.2:c.166C>T
Protein change:
R56C
Links:
dbSNP: rs267606538
NCBI 1000 Genomes Browser:
rs267606538
Molecular consequence:
  • NM_001302959.2:c.-12C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001302960.2:c.166C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003977.4:c.166C>T - missense variant - [Sequence Ontology: SO:0001583]

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: 963; OMIM: 102200

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
SCV001259525Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas.

Tichomirowa MA, Barlier A, Daly AF, Jaffrain-Rea ML, Ronchi C, Yaneva M, Urban JD, Petrossians P, Elenkova A, Tabarin A, Desailloud R, Maiter D, Schürmeyer T, Cozzi R, Theodoropoulou M, Sievers C, Bernabeu I, Naves LA, Chabre O, Montañana CF, Hana V, Halaby G, et al.

Eur J Endocrinol. 2011 Oct;165(4):509-15. doi: 10.1530/EJE-11-0304. Epub 2011 Jul 13.

PubMed [citation]
PMID:
21753072

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001259525.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

Support Center