NM_002516.4(NOVA2):c.826del (p.Leu276fs) AND Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 17, 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:: RCV001786534.1

Allele description [Variation Report for NM_002516.4(NOVA2):c.826del (p.Leu276fs)]

NM_002516.4(NOVA2):c.826del (p.Leu276fs)

Gene:

NOVA2:NOVA alternative splicing regulator 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19q13.32

Genomic location:

Preferred name:

NM_002516.4(NOVA2):c.826del (p.Leu276fs)

HGVS:

NC_000019.10:g.45940517del
NM_002516.4:c.826delMANE SELECT
NP_002507.1:p.Leu276fs
NC_000019.9:g.46443775del
NM_002516.3:c.826del

Protein change:

L276fs

Links:

dbSNP: rs2146406554

NCBI 1000 Genomes Browser:

rs2146406554

Molecular consequence:

NM_002516.4:c.826del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
Identifiers:: MONDO: MONDO:0030024; MedGen: C5394311; OMIM: 618859

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002028355	Blueprint Genetics	no assertion criteria provided	Likely pathogenic (Nov 17, 2021)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002028355

Blueprint Genetics

no assertion criteria provided

Likely pathogenic
(Nov 17, 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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Blueprint Genetics, SCV002028355.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		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: Dec 24, 2023

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