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NM_005149.3(TBX19):c.608C>T (p.Thr203Met) AND Congenital isolated adrenocorticotropic hormone deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 5, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001028050.1

Allele description [Variation Report for NM_005149.3(TBX19):c.608C>T (p.Thr203Met)]

NM_005149.3(TBX19):c.608C>T (p.Thr203Met)

Gene:
TBX19:T-box transcription factor 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q24.2
Genomic location:
Preferred name:
NM_005149.3(TBX19):c.608C>T (p.Thr203Met)
HGVS:
  • NC_000001.11:g.168297728C>T
  • NG_008244.1:g.21689C>T
  • NM_005149.3:c.608C>TMANE SELECT
  • NP_005140.1:p.Thr203Met
  • NC_000001.10:g.168266966C>T
  • NM_005149.2:c.608C>T
Protein change:
T203M
Links:
dbSNP: rs748717639
NCBI 1000 Genomes Browser:
rs748717639
Molecular consequence:
  • NM_005149.3:c.608C>T - missense variant - [Sequence Ontology: SO:0001583]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001190822Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
no assertion criteria provided
Likely pathogenic
(Feb 5, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV001190822.1

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

Last Updated: Oct 15, 2022