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

Recent activity

Clear Turn Off Turn On

MIGS Cultured Bacterial/Archaeal sample from Roseovarius autotrophicus
MIGS Cultured Bacterial/Archaeal sample from Roseovarius autotrophicus

biosample

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004538636	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Apr 14, 2023)	germline	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

SCV004538636

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Apr 14, 2023)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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).

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine