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NM_012448.4(STAT5B):c.1102del (p.Gln368fs) AND Growth hormone insensitivity with immune dysregulation 1, autosomal recessive

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Aug 4, 2023
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:
RCV001042704.6

Allele description [Variation Report for NM_012448.4(STAT5B):c.1102del (p.Gln368fs)]

NM_012448.4(STAT5B):c.1102del (p.Gln368fs)

Gene:
STAT5B:signal transducer and activator of transcription 5B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_012448.4(STAT5B):c.1102del (p.Gln368fs)
HGVS:
  • NC_000017.11:g.42218225del
  • NG_007271.1:g.63189del
  • NM_012448.4:c.1102delMANE SELECT
  • NP_036580.2:p.Gln368fs
  • LRG_192t1:c.1102del
  • LRG_192:g.63189del
  • NC_000017.10:g.40370236del
  • NC_000017.10:g.40370243del
  • NM_012448.3:c.1102del
  • NM_012448.3:c.1102delC
Protein change:
Q368fs
Links:
dbSNP: rs761761205
NCBI 1000 Genomes Browser:
rs761761205
Molecular consequence:
  • NM_012448.4:c.1102del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
Synonyms:
Growth hormone insensitivity with immunodeficiency; Growth hormone insensitivity due to postreceptor defect; Laron syndrome due to postreceptor defect; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0100211; MedGen: C5435698; Orphanet: 220465; OMIM: 245590

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001206404Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Aug 4, 2023)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV001482398Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
no assertion criteria provided
Likely pathogenic
(May 31, 2019)
unknownresearch

Summary from all submissions

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

Citations

PubMed

Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.

Fan X, Zhao S, Yu C, Wu D, Yan Z, Fan L, Song Y, Wang Y, Li C, Ming Y, Gui B, Niu Y, Li X, Yang X, Luo S, Zhang Q, Zhao X, Pan H, Li M, Xia W, Qiu G, Liu P, et al.

J Genet Genomics. 2021 May 20;48(5):396-402. doi: 10.1016/j.jgg.2021.02.008. Epub 2021 Mar 22.

PubMed [citation]
PMID:
34006472

Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b.

Hwa V, Little B, Adiyaman P, Kofoed EM, Pratt KL, Ocal G, Berberoglu M, Rosenfeld RG.

J Clin Endocrinol Metab. 2005 Jul;90(7):4260-6. Epub 2005 Apr 12.

PubMed [citation]
PMID:
15827093
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001206404.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with short stature (PMID: 34006472). ClinVar contains an entry for this variant (Variation ID: 840661). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln368Argfs*2) in the STAT5B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STAT5B are known to be pathogenic (PMID: 15827093).

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

From Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital, SCV001482398.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024