NM_021964.3(ZNF148):c.1630_1631del (p.Leu544fs) AND Intellectual disability

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 31, 2021
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:: RCV001450050.3

Allele description [Variation Report for NM_021964.3(ZNF148):c.1630_1631del (p.Leu544fs)]

NM_021964.3(ZNF148):c.1630_1631del (p.Leu544fs)

Genes:

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

Variant type:

Microsatellite

Cytogenetic location:

3q21.2

Genomic location:

Preferred name:

NM_021964.3(ZNF148):c.1630_1631del (p.Leu544fs)

HGVS:

NC_000003.12:g.125233095AG[1]
NC_000003.12:g.125233095_125233096AG[1]
NG_052987.1:g.147257CT[1]
NM_001348424.1:c.1630_1631del
NM_001348425.2:c.1630_1631del
NM_001348426.2:c.1630_1631del
NM_001348427.2:c.1630_1631del
NM_001348428.2:c.1630_1631del
NM_001348429.2:c.1630_1631del
NM_001348430.2:c.1630_1631del
NM_001348431.2:c.1630_1631del
NM_001348432.2:c.1630_1631del
NM_001348433.2:c.1630_1631del
NM_001348434.2:c.1504_1505del
NM_021964.3:c.1630_1631delMANE SELECT
NP_001335353.1:p.Leu544fs
NP_001335354.1:p.Leu544fs
NP_001335355.1:p.Leu544fs
NP_001335356.1:p.Leu544fs
NP_001335357.1:p.Leu544fs
NP_001335358.1:p.Leu544fs
NP_001335359.1:p.Leu544fs
NP_001335360.1:p.Leu544fs
NP_001335361.1:p.Leu544fs
NP_001335362.1:p.Leu544fs
NP_001335363.1:p.Leu502fs
NP_068799.2:p.Leu544fs
NC_000003.11:g.124951939AG[1]
NC_000003.11:g.124951939_124951940del

Protein change:

L502fs

Links:

dbSNP: rs1579576029

NCBI 1000 Genomes Browser:

rs1579576029

Molecular consequence:

NM_001348424.1:c.1630_1631del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348425.2:c.1630_1631del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348426.2:c.1630_1631del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348427.2:c.1630_1631del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348428.2:c.1630_1631del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348429.2:c.1630_1631del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348430.2:c.1630_1631del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348431.2:c.1630_1631del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348432.2:c.1630_1631del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348433.2:c.1630_1631del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348434.2:c.1504_1505del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_021964.3:c.1630_1631del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Intellectual disability
Synonyms:: Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:: MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001653678	Génétique des Maladies du Développement, Hospices Civils de Lyon	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 31, 2021)	de novo	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

SCV001653678

Génétique des Maladies du Développement, Hospices Civils de Lyon

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 31, 2021)

de novo

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	de novo	yes	1	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 Génétique des Maladies du Développement, Hospices Civils de Lyon, SCV001653678.1

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

Description

de novo truncating variant absent from gnomAD

#	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		1	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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