NM_001375912.1(ZNF532):c.3444dup (p.Val1149fs) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 20, 2022
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:: RCV002245527.1

Allele description [Variation Report for NM_001375912.1(ZNF532):c.3444dup (p.Val1149fs)]

NM_001375912.1(ZNF532):c.3444dup (p.Val1149fs)

Genes:

LOC126862765:BRD4-independent group 4 enhancer GRCh37_chr18:56650842-56652041 [Gene]
ZNF532:zinc finger protein 532 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

18q21.32

Genomic location:

Preferred name:

NM_001375912.1(ZNF532):c.3444dup (p.Val1149fs)

HGVS:

NC_000018.10:g.58984004dup
NM_001318726.2:c.3444dup
NM_001318727.2:c.3444dup
NM_001318728.2:c.3444dup
NM_001353525.2:c.3444dup
NM_001353526.2:c.3444dup
NM_001353527.2:c.3444dup
NM_001353528.2:c.3444dup
NM_001353529.2:c.3444dup
NM_001353530.2:c.3432dup
NM_001353531.2:c.3432dup
NM_001353532.2:c.3432dup
NM_001353533.2:c.3267dup
NM_001353534.2:c.3255dup
NM_001353535.2:c.2922dup
NM_001353536.2:c.2922dup
NM_001353537.2:c.2910dup
NM_001353538.2:c.2640dup
NM_001375912.1:c.3444dupMANE SELECT
NM_001375913.1:c.3267dup
NM_018181.6:c.3444dup
NP_001305655.1:p.Val1149fs
NP_001305656.1:p.Val1149fs
NP_001305657.1:p.Val1149fs
NP_001340454.1:p.Val1149fs
NP_001340455.1:p.Val1149fs
NP_001340456.1:p.Val1149fs
NP_001340457.1:p.Val1149fs
NP_001340458.1:p.Val1149fs
NP_001340459.1:p.Val1145fs
NP_001340460.1:p.Val1145fs
NP_001340461.1:p.Val1145fs
NP_001340462.1:p.Val1090fs
NP_001340463.1:p.Val1086fs
NP_001340464.1:p.Val975fs
NP_001340465.1:p.Val975fs
NP_001340466.1:p.Val971fs
NP_001340467.1:p.Val881fs
NP_001362841.1:p.Val1149fs
NP_001362842.1:p.Val1090fs
NP_060651.2:p.Val1149fs
NC_000018.9:g.56651236dup
NM_018181.5:c.3444dupA
NR_148459.2:n.4248dup
NR_148460.2:n.3675dup

Protein change:

V1086fs

Links:

dbSNP: rs2147793377

NCBI 1000 Genomes Browser:

rs2147793377

Molecular consequence:

NM_001318726.2:c.3444dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318727.2:c.3444dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318728.2:c.3444dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353525.2:c.3444dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353526.2:c.3444dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353527.2:c.3444dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353528.2:c.3444dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353529.2:c.3444dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353530.2:c.3432dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353531.2:c.3432dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353532.2:c.3432dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353533.2:c.3267dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353534.2:c.3255dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353535.2:c.2922dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353536.2:c.2922dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353537.2:c.2910dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353538.2:c.2640dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375912.1:c.3444dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375913.1:c.3267dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_018181.6:c.3444dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_148459.2:n.4248dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148460.2:n.3675dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Autism (AUTS)
Synonyms:: Autistic disorder; Autistic disorder of childhood onset
Identifiers:: MONDO: MONDO:0005260; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717

Name:: Obesity
Synonyms:: Obesity disorder
Identifiers:: MONDO: MONDO:0011122; MeSH: D009765; MedGen: C0028754; Orphanet: 71529; Human Phenotype Ontology: HP:0001513

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002515838	HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - HudsonAlpha-AGHI-WGS	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 20, 2022)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002515838

HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - HudsonAlpha-AGHI-WGS

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 20, 2022)

unknown

research

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	unknown	unknown	1	not provided	not provided	1	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - HudsonAlpha-AGHI-WGS, SCV002515838.1

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

Description

ACMG codes: PM2, PM3

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

Last Updated: Dec 24, 2023

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