NM_003977.4(AIP):c.47G>A (p.Arg16His) AND Somatotroph adenoma

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Nov 3, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000034083.5

Allele description [Variation Report for NM_003977.4(AIP):c.47G>A (p.Arg16His)]

NM_003977.4(AIP):c.47G>A (p.Arg16His)

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.47G>A (p.Arg16His)
HGVS:
  • NC_000011.10:g.67483205G>A
  • NG_008969.1:g.5172G>A
  • NM_001302960.2:c.47G>A
  • NM_003977.4:c.47G>AMANE SELECT
  • NP_001289889.1:p.Arg16His
  • NP_003968.3:p.Arg16His
  • LRG_460t1:c.47G>A
  • LRG_460:g.5172G>A
  • NC_000011.9:g.67250676G>A
  • NM_003977.2:c.47G>A
  • NM_003977.3:c.47G>A
Protein change:
R16H
Links:
dbSNP: rs145047094
NCBI 1000 Genomes Browser:
rs145047094
Molecular consequence:
  • NM_001302960.2:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003977.4:c.47G>A - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000058013GeneReviewsno assertion criteria providedunknown
(Jun 21, 2012)
not providedcuration

SCV000373570Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Apr 27, 2017)
germlineclinical testing

Citation Link,

SCV002009990Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresdencriteria provided, single submitter
Uncertain significance
(Nov 3, 2021)
germlineclinical testing

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

Summary from all submissions

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

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 GeneReviews, SCV000058013.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Uncertain significance.

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

From Illumina Clinical Services Laboratory,Illumina, SCV000373570.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

From Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden, SCV002009990.1

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

Last Updated: Nov 27, 2021

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