NM_003977.4(AIP):c.721A>G (p.Lys241Glu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 2, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001366846.1

Allele description [Variation Report for NM_003977.4(AIP):c.721A>G (p.Lys241Glu)]

NM_003977.4(AIP):c.721A>G (p.Lys241Glu)

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.721A>G (p.Lys241Glu)
HGVS:
  • NC_000011.10:g.67490391A>G
  • NG_008969.1:g.12358A>G
  • NM_001302959.2:c.544A>G
  • NM_001302960.2:c.721A>G
  • NM_003977.4:c.721A>GMANE SELECT
  • NP_001289888.1:p.Lys182Glu
  • NP_001289889.1:p.Lys241Glu
  • NP_003968.3:p.Lys241Glu
  • LRG_460t1:c.721A>G
  • LRG_460:g.12358A>G
  • NC_000011.9:g.67257862A>G
  • NC_000011.9:g.67257862A>G
  • NM_003977.2:c.721A>G
Protein change:
K182E
Links:
dbSNP: rs267606573
NCBI 1000 Genomes Browser:
rs267606573
Molecular consequence:
  • NM_001302959.2:c.544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302960.2:c.721A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003977.4:c.721A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001563163Invitaecriteria provided, single submitter
Uncertain significance
(Oct 2, 2020)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families.

Daly AF, Vanbellinghen JF, Khoo SK, Jaffrain-Rea ML, Naves LA, Guitelman MA, Murat A, Emy P, Gimenez-Roqueplo AP, Tamburrano G, Raverot G, Barlier A, De Herder W, Penfornis A, Ciccarelli E, Estour B, Lecomte P, Gatta B, Chabre O, Sabaté MI, Bertagna X, Garcia Basavilbaso N, et al.

J Clin Endocrinol Metab. 2007 May;92(5):1891-6. Epub 2007 Jan 23.

PubMed [citation]
PMID:
17244780

Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families.

Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, Chapple JP, Trivellin G, Gueorguiev M, Guegan K, Stals K, Khoo B, Kumar AV, Ellard S, Grossman AB, Korbonits M; International FIPA Consortium..

Hum Mutat. 2010 Aug;31(8):950-60. doi: 10.1002/humu.21292.

PubMed [citation]
PMID:
20506337
PMCID:
PMC3065644
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001563163.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change replaces lysine with glutamic acid at codon 241 of the AIP protein (p.Lys241Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs267606573, ExAC 0.008%). This variant has been observed in individual(s) with familial isolated pituitary adenoma (PMID: 17244780). ClinVar contains an entry for this variant (Variation ID: 41200). Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on AIP protein function (PMID: 20506337, 19366855). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 24, 2021

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