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NM_005149.3(TBX19):c.603+10_603+11insTT AND Congenital isolated adrenocorticotropic hormone deficiency

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000330602.5

Allele description [Variation Report for NM_005149.3(TBX19):c.603+10_603+11insTT]

NM_005149.3(TBX19):c.603+10_603+11insTT

Gene:
TBX19:T-box transcription factor 19 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
1q24.2
Genomic location:
Preferred name:
NM_005149.3(TBX19):c.603+10_603+11insTT
HGVS:
  • NC_000001.11:g.168293288_168293289insTT
  • NG_008244.1:g.17249_17250insTT
  • NM_005149.3:c.603+10_603+11insTTMANE SELECT
  • NC_000001.10:g.168262525_168262526insTT
  • NC_000001.10:g.168262526_168262527insTT
  • NM_005149.2:c.603+10_603+11insTT
Links:
dbSNP: rs373712384
NCBI 1000 Genomes Browser:
rs373712384
Molecular consequence:
  • NM_005149.3:c.603+10_603+11insTT - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Congenital isolated adrenocorticotropic hormone deficiency
Synonyms:
ACTH DEFICIENCY, ISOLATED; ACTH deficiency; Adrenocorticotropic hormone deficiency
Identifiers:
MONDO: MONDO:0008720; MedGen: C0342388; Orphanet: 199296; OMIM: 201400; Human Phenotype Ontology: HP:0011748

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000350437Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000350437.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024