NM_017617.5(NOTCH1):c.5950C>T (p.Arg1984Ter) AND KA-like vemurafenib-induced squamous lesions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 7, 2016
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:: RCV001849412.1

Allele description [Variation Report for NM_017617.5(NOTCH1):c.5950C>T (p.Arg1984Ter)]

NM_017617.5(NOTCH1):c.5950C>T (p.Arg1984Ter)

Genes:

LOC126860794:BRD4-independent group 4 enhancer GRCh37_chr9:139392592-139393791 [Gene]
NOTCH1:notch receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

Preferred name:

NM_017617.5(NOTCH1):c.5950C>T (p.Arg1984Ter)

HGVS:

NC_000009.12:g.136499244G>A
NG_007458.1:g.51543C>T
NM_017617.5:c.5950C>TMANE SELECT
NP_060087.3:p.Arg1984Ter
LRG_1122t1:c.5950C>T
LRG_1122:g.51543C>T
LRG_1122p1:p.Arg1984Ter
NC_000009.11:g.139393696G>A
NM_017617.3:c.5950C>T

Protein change:

R1984*

Links:

dbSNP: rs1554826746

NCBI 1000 Genomes Browser:

rs1554826746

Molecular consequence:

NM_017617.5:c.5950C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: KA-like vemurafenib-induced squamous lesions
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002106968	Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics	no assertion criteria provided	Pathogenic (Jun 7, 2016)	somatic	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002106968

Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics

no assertion criteria provided

Pathogenic
(Jun 7, 2016)

somatic

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	1	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Keratoacanthoma Shares Driver Mutations with Cutaneous Squamous Cell Carcinoma.

Lim YH, Fisher JM, Bosenberg MW, Choate KA, Ko CJ.

J Invest Dermatol. 2016 Aug;136(8):1737-1741. doi: 10.1016/j.jid.2016.04.002. Epub 2016 Jun 7. No abstract available.

PubMed [citation]

PMID:: 27283355

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106968.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	literature only	PubMed (1)

#	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: Apr 28, 2025

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