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NM_012448.4(STAT5B):c.2225T>C (p.Met742Thr) AND Growth hormone insensitivity with immune dysregulation 1, autosomal recessive

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 15, 2020
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:
RCV001349089.6

Allele description

NM_012448.4(STAT5B):c.2225T>C (p.Met742Thr)

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.2225T>C (p.Met742Thr)
HGVS:
  • NC_000017.11:g.42202352A>G
  • NG_007271.1:g.79055T>C
  • NM_012448.4:c.2225T>CMANE SELECT
  • NP_036580.2:p.Met742Thr
  • LRG_192:g.79055T>C
  • NC_000017.10:g.40354370A>G
Protein change:
M742T
Links:
dbSNP: rs2080051897
NCBI 1000 Genomes Browser:
rs2080051897
Molecular consequence:
  • NM_012448.4:c.2225T>C - 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
SCV001543416Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jun 15, 2020) 		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 Invitae, SCV001543416.4

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

Description

This sequence change replaces methionine with threonine at codon 742 of the STAT5B protein (p.Met742Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with STAT5B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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.

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

Last Updated: Mar 5, 2024