NM_003977.4(AIP):c.383G>A (p.Arg128His) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: May 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001021265.1

Allele description [Variation Report for NM_003977.4(AIP):c.383G>A (p.Arg128His)]

NM_003977.4(AIP):c.383G>A (p.Arg128His)

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.383G>A (p.Arg128His)
HGVS:
  • NC_000011.10:g.67489370G>A
  • NG_008969.1:g.11337G>A
  • NM_001302959.1:c.206G>A
  • NM_001302960.2:c.383G>A
  • NM_003977.4:c.383G>AMANE SELECT
  • NP_001289888.1:p.Arg69His
  • NP_001289889.1:p.Arg128His
  • NP_003968.3:p.Arg128His
  • LRG_460t1:c.383G>A
  • LRG_460:g.11337G>A
  • NC_000011.9:g.67256841G>A
  • NM_003977.2:c.383G>A
  • NM_003977.3:c.383G>A
Protein change:
R128H
Links:
dbSNP: rs267606550
NCBI 1000 Genomes Browser:
rs267606550
Molecular consequence:
  • NM_001302959.1:c.206G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302960.2:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003977.4:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001182857Ambry Geneticscriteria provided, single submitter
Likely benign
(May 31, 2018)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Expression of aryl hydrocarbon receptor (AHR) and AHR-interacting protein in pituitary adenomas: pathological and clinical implications.

Jaffrain-Rea ML, Angelini M, Gargano D, Tichomirowa MA, Daly AF, Vanbellinghen JF, D'Innocenzo E, Barlier A, Giangaspero F, Esposito V, Ventura L, Arcella A, Theodoropoulou M, Naves LA, Fajardo C, Zacharieva S, Rohmer V, Brue T, Gulino A, Cantore G, Alesse E, Beckers A.

Endocr Relat Cancer. 2009 Sep;16(3):1029-43. doi: 10.1677/ERC-09-0094. Epub 2009 Jun 25.

PubMed [citation]
PMID:
19556287

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, Sch├╝rmeyer T, Cozzi R, Theodoropoulou M, Sievers C, Bernabeu I, Naves LA, Chabre O, Monta├▒ana 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
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV001182857.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

Other strong data supporting benign classification

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2021

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