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

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:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004141137CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Benign
(Oct 1, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004141137.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided

Description

SOCS1: BS1, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Aug 4, 2024