NM_014159.7(SETD2):c.1748_1751del (p.Lys583fs) AND Luscan-Lumish syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 13, 2021
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:: RCV001788514.1

Allele description [Variation Report for NM_014159.7(SETD2):c.1748_1751del (p.Lys583fs)]

NM_014159.7(SETD2):c.1748_1751del (p.Lys583fs)

Gene:

SETD2:SET domain containing 2, histone lysine methyltransferase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p21.31

Genomic location:

Preferred name:

NM_014159.7(SETD2):c.1748_1751del (p.Lys583fs)

HGVS:

NC_000003.12:g.47122887_47122890del
NG_032091.1:g.46090_46093del
NM_001349370.3:c.1616_1619del
NM_014159.7:c.1748_1751delMANE SELECT
NP_001336299.1:p.Lys539fs
NP_054878.5:p.Lys583fs
LRG_775:g.46090_46093del
NC_000003.11:g.47164377_47164380del
NM_014159.7:c.1748_1751delAACAMANE SELECT
NR_146158.3:n.1937_1940del

Protein change:

K539fs

Links:

dbSNP: rs2043159037

NCBI 1000 Genomes Browser:

rs2043159037

Molecular consequence:

NM_001349370.3:c.1616_1619del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014159.7:c.1748_1751del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_146158.3:n.1937_1940del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Luscan-Lumish syndrome
Identifiers:: MONDO: MONDO:0014791; MedGen: C4085873; OMIM: 616831

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001712222	Pediatric Genetics Clinic, Sheba Medical Center	no assertion criteria provided	Pathogenic (May 13, 2021)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001712222

Pediatric Genetics Clinic, Sheba Medical Center

no assertion criteria provided

Pathogenic
(May 13, 2021)

de novo

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Pediatric Genetics Clinic, Sheba Medical Center, SCV001712222.1

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

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

Last Updated: Aug 11, 2024

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