NM_005475.3(SH2B3):c.202_203del (p.Thr68fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 7, 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:: RCV004592074.1

Allele description [Variation Report for NM_005475.3(SH2B3):c.202_203del (p.Thr68fs)]

NM_005475.3(SH2B3):c.202_203del (p.Thr68fs)

Gene:

SH2B3:SH2B adaptor protein 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q24.12

Genomic location:

Preferred name:

NM_005475.3(SH2B3):c.202_203del (p.Thr68fs)

HGVS:

NC_000012.12:g.111418347_111418348del
NG_021216.1:g.17400_17401del
NG_126591.1:g.781_782del
NM_005475.3:c.202_203delMANE SELECT
NP_005466.1:p.Thr68Argfs
NP_005466.1:p.Thr68fs
LRG_621t1:c.202_203del
LRG_621:g.17400_17401del
NC_000012.11:g.111856151_111856152del
NM_005475.2:c.202_203del
NM_005475.2:c.202_203delAC

Protein change:

T68fs

Molecular consequence:

NM_005475.3:c.202_203del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005081200	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Sep 7, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005081200

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Sep 7, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV005081200.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015)

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

Last Updated: Jul 29, 2024

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