NM_003745.2(SOCS1):c.134_139dup (p.Val45_Pro46dup) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (1 submission)
Last evaluated:: Oct 1, 2022
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:: RCV003415923.8

Allele description

NM_003745.2(SOCS1):c.134_139dup (p.Val45_Pro46dup)

Gene:

SOCS1:suppressor of cytokine signaling 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

16p13.13

Genomic location:

Preferred name:

NM_003745.2(SOCS1):c.134_139dup (p.Val45_Pro46dup)

HGVS:

NC_000016.10:g.11255343_11255348dup
NM_003745.2:c.134_139dupMANE SELECT
NP_003736.1:p.Val45_Pro46dup
NC_000016.9:g.11349200_11349205dup

Links:

dbSNP: rs587778690

NCBI 1000 Genomes Browser:

rs587778690

Molecular consequence:

NM_003745.2:c.134_139dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Observations:

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
SCV004141137	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Oct 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004141137

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Benign
(Oct 1, 2022)

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	3	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004141137.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided

Description

SOCS1: BS1, BS2

#	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		3	not provided	not provided	not provided

Last Updated: Aug 4, 2024

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Relating variation to medicine