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NM_012448.4(STAT5B):c.1382C>T (p.Thr461Ile) AND Growth hormone insensitivity with immune dysregulation 1, autosomal recessive

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 14, 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:
RCV003615377.3

Allele description [Variation Report for NM_012448.4(STAT5B):c.1382C>T (p.Thr461Ile)]

NM_012448.4(STAT5B):c.1382C>T (p.Thr461Ile)

Gene:
STAT5B:signal transducer and activator of transcription 5B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_012448.4(STAT5B):c.1382C>T (p.Thr461Ile)
HGVS:
  • NC_000017.11:g.42216105G>A
  • NG_007271.1:g.65302C>T
  • NM_012448.4:c.1382C>TMANE SELECT
  • NP_036580.2:p.Thr461Ile
  • NP_036580.2:p.Thr461Ile
  • LRG_192t1:c.1382C>T
  • LRG_192:g.65302C>T
  • LRG_192p1:p.Thr461Ile
  • NC_000017.10:g.40368123G>A
  • NM_012448.3:c.1382C>T
Protein change:
T461I
Molecular consequence:
  • NM_012448.4:c.1382C>T - missense variant - [Sequence Ontology: SO:0001583]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004538636Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Apr 14, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004538636.1

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

Description

This variant has not been reported in the literature in individuals affected with STAT5B-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 461 of the STAT5B protein (p.Thr461Ile).

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

Last Updated: Sep 29, 2024