NM_001080517.3(SETD5):c.3855del (p.Ser1286fs) AND Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 4, 2023
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:: RCV003315163.2

Allele description [Variation Report for NM_001080517.3(SETD5):c.3855del (p.Ser1286fs)]

NM_001080517.3(SETD5):c.3855del (p.Ser1286fs)

Gene:

SETD5:SET domain containing 5 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_001080517.3(SETD5):c.3855del (p.Ser1286fs)

HGVS:

NC_000003.12:g.9475617del
NG_034132.1:g.82918del
NM_001080517.3:c.3855delMANE SELECT
NM_001292043.2:c.3561del
NM_001349451.2:c.3561del
NP_001073986.1:p.Ser1286fs
NP_001278972.1:p.Ser1188fs
NP_001336380.1:p.Ser1188fs
NC_000003.11:g.9517301del
NM_001080517.2:c.3855delC

Protein change:

S1188fs

Molecular consequence:

NM_001080517.3:c.3855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001292043.2:c.3561del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349451.2:c.3561del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency (MRD23)
Synonyms:: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23
Identifiers:: MONDO: MONDO:0014336; MedGen: C3810406; Orphanet: 404440; OMIM: 615761

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004014785	Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	criteria provided, single submitter (ACGS Guidelines, 2020)	Likely pathogenic (Apr 4, 2023)	de novo	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004014785

Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

criteria provided, single submitter

(ACGS Guidelines, 2020)

Likely pathogenic
(Apr 4, 2023)

de novo

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV004014785.1

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

Last Updated: Feb 4, 2024

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