NM_003977.4(AIP):c.844dup (p.Gln282fs) AND Somatotroph adenoma

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 11, 2022
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:: RCV003460152.1

Allele description [Variation Report for NM_003977.4(AIP):c.844dup (p.Gln282fs)]

NM_003977.4(AIP):c.844dup (p.Gln282fs)

Gene:

AIP:aryl hydrocarbon receptor interacting protein [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11q13.2

Genomic location:

Preferred name:

NM_003977.4(AIP):c.844dup (p.Gln282fs)

HGVS:

NC_000011.10:g.67490844dup
NG_008969.1:g.12811dup
NM_001302959.2:c.667dup
NM_001302960.2:c.836dup
NM_003977.4:c.844dupMANE SELECT
NP_001289888.1:p.Gln223fs
NP_001289889.1:p.Gly280fs
NP_003968.2:p.Gln282Profs
NP_003968.3:p.Gln282fs
LRG_460t1:c.844dup
LRG_460:g.12811dup
LRG_460p1:p.Gln282Profs
NC_000011.9:g.67258315dup
NM_003977.2:c.844dup

Protein change:

G280fs

Molecular consequence:

NM_001302959.2:c.667dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001302960.2:c.836dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003977.4:c.844dup - frameshift variant - [Sequence Ontology: SO:0001589]

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: 314777; Orphanet: 963; OMIM: 102200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004196060	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 11, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004196060

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 11, 2022)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Baylor Genetics, SCV004196060.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 30, 2023

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