NM_021964.3(ZNF148):c.1994C>G (p.Ser665Cys) AND Autism spectrum disorder

Germline classification:: Uncertain significance (1 submission)
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:: RCV003127440.1

Allele description [Variation Report for NM_021964.3(ZNF148):c.1994C>G (p.Ser665Cys)]

NM_021964.3(ZNF148):c.1994C>G (p.Ser665Cys)

Genes:

LOC126806798:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:124950809-124952008 [Gene]
ZNF148:zinc finger protein 148 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.2

Genomic location:

Preferred name:

NM_021964.3(ZNF148):c.1994C>G (p.Ser665Cys)

HGVS:

NC_000003.12:g.125232732G>C
NG_052987.1:g.147623C>G
NG_083118.1:g.868G>C
NM_001348424.1:c.1994C>G
NM_001348425.2:c.1994C>G
NM_001348426.2:c.1994C>G
NM_001348427.2:c.1994C>G
NM_001348428.2:c.1994C>G
NM_001348429.2:c.1994C>G
NM_001348430.2:c.1994C>G
NM_001348431.2:c.1994C>G
NM_001348432.2:c.1994C>G
NM_001348433.2:c.1994C>G
NM_001348434.2:c.1868C>G
NM_021964.3:c.1994C>GMANE SELECT
NP_001335353.1:p.Ser665Cys
NP_001335354.1:p.Ser665Cys
NP_001335355.1:p.Ser665Cys
NP_001335356.1:p.Ser665Cys
NP_001335357.1:p.Ser665Cys
NP_001335358.1:p.Ser665Cys
NP_001335359.1:p.Ser665Cys
NP_001335360.1:p.Ser665Cys
NP_001335361.1:p.Ser665Cys
NP_001335362.1:p.Ser665Cys
NP_001335363.1:p.Ser623Cys
NP_068799.2:p.Ser665Cys
NC_000003.11:g.124951576G>C
NM_021964.2:c.1994C>G

Protein change:

S623C

Molecular consequence:

NM_001348424.1:c.1994C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348425.2:c.1994C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348426.2:c.1994C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348427.2:c.1994C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348428.2:c.1994C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348429.2:c.1994C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348430.2:c.1994C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348431.2:c.1994C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348432.2:c.1994C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348433.2:c.1994C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348434.2:c.1868C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_021964.3:c.1994C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autism spectrum disorder
Synonyms:: Autism spectrum disorders
Identifiers:: MONDO: MONDO:0005258; MeSH: D000067877; MedGen: C1510586

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003804022	Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003804022

Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

unknown

clinical testing

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine, SCV003804022.1

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

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

Last Updated: Nov 18, 2024

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