NM_021964.3(ZNF148):c.1630_1631del (p.Leu544fs) AND Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 6, 2019
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:: RCV000995681.6

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:: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (GDACCF)
Identifiers:: MONDO: MONDO:0014994; MedGen: C4310644; OMIM: 617260

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001149990	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Nov 6, 2019)	de novo	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001149990

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Nov 6, 2019)

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	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV001149990.1

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

Last Updated: Jun 23, 2024

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