NM_003745.2(SOCS1):c.462C>A (p.Tyr154Ter) AND Malignant lymphoma, large B-cell, diffuse

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 4, 2023
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003449012.2

Allele description [Variation Report for NM_003745.2(SOCS1):c.462C>A (p.Tyr154Ter)]

NM_003745.2(SOCS1):c.462C>A (p.Tyr154Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.13

Genomic location:

Preferred name:

NM_003745.2(SOCS1):c.462C>A (p.Tyr154Ter)

HGVS:

NC_000016.10:g.11255017G>T
NG_192899.1:g.268G>T
NM_003745.2:c.462C>AMANE SELECT
NP_003736.1:p.Tyr154Ter
NC_000016.9:g.11348874G>T
NM_003745.1:c.462C>A

Protein change:

Y154*

Links:

dbSNP: rs906125295

Molecular consequence:

NM_003745.2:c.462C>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Malignant lymphoma, large B-cell, diffuse
Synonyms:: Diffuse large B cell lymphoma
Identifiers:: MONDO: MONDO:0018905; MeSH: D016403; MedGen: C0079744

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004176807	Department Of Pathology & Laboratory Medicine, University Of Pennsylvania	no assertion criteria provided	Pathogenic (Dec 4, 2023)	somatic	clinical testing	PubMed (5) [See all records that cite these PMIDs] 23296022, 19734449, 28302137, 26336985, 29625055

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004176807

Department Of Pathology & Laboratory Medicine, University Of Pennsylvania

no assertion criteria provided

Pathogenic
(Dec 4, 2023)

somatic

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	somatic	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

SOCS1 mutation subtypes predict divergent outcomes in diffuse large B-Cell lymphoma (DLBCL) patients.

Schif B, Lennerz JK, Kohler CW, Bentink S, Kreuz M, Melzner I, Ritz O, Trümper L, Loeffler M, Spang R, Möller P.

Oncotarget. 2013 Jan;4(1):35-47.

PubMed [citation]

PMID:: 23296022
PMCID:: PMC3702206

Inactivating SOCS1 mutations are caused by aberrant somatic hypermutation and restricted to a subset of B-cell lymphoma entities.

Mottok A, Renné C, Seifert M, Oppermann E, Bechstein W, Hansmann ML, Küppers R, Bräuninger A.

Blood. 2009 Nov 12;114(20):4503-6. doi: 10.1182/blood-2009-06-225839. Epub 2009 Sep 4.

PubMed [citation]

PMID:: 19734449

See all PubMed Citations (5)

Details of each submission

From Department Of Pathology & Laboratory Medicine, University Of Pennsylvania, SCV004176807.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	1	not provided	not provided	clinical testing	PubMed (5)

Description

Pre-therapy specimen. This is a truncating mutation predicted to remove last exon; multiple studies show truncating mutations in SOCS1 are inactivating and pathogenic, and have been identified in DLBCL.

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

Last Updated: May 16, 2025

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