NM_021964.3(ZNF148):c.2334_2335del (p.Arg778fs) AND Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 11, 2017
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:: RCV000660472.5

Allele description [Variation Report for NM_021964.3(ZNF148):c.2334_2335del (p.Arg778fs)]

NM_021964.3(ZNF148):c.2334_2335del (p.Arg778fs)

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.2334_2335del (p.Arg778fs)

HGVS:

NC_000003.12:g.125232391CT[1]
NG_052987.1:g.147961AG[1]
NM_001348424.1:c.2334_2335del
NM_001348425.2:c.2334_2335del
NM_001348426.2:c.2334_2335del
NM_001348427.2:c.2334_2335del
NM_001348428.2:c.2334_2335del
NM_001348429.2:c.2334_2335del
NM_001348430.2:c.2334_2335del
NM_001348431.2:c.2334_2335del
NM_001348432.2:c.2334_2335del
NM_001348433.2:c.2334_2335del
NM_001348434.2:c.2208_2209del
NM_021964.3:c.2334_2335delMANE SELECT
NP_001335353.1:p.Arg778fs
NP_001335354.1:p.Arg778fs
NP_001335355.1:p.Arg778fs
NP_001335356.1:p.Arg778fs
NP_001335357.1:p.Arg778fs
NP_001335358.1:p.Arg778fs
NP_001335359.1:p.Arg778fs
NP_001335360.1:p.Arg778fs
NP_001335361.1:p.Arg778fs
NP_001335362.1:p.Arg778fs
NP_001335363.1:p.Arg736fs
NP_068799.2:p.Arg778fs
NC_000003.11:g.124951235CT[1]
NM_021964.2:c.2334_2335del

Protein change:

R736fs

Links:

dbSNP: rs1553802038

NCBI 1000 Genomes Browser:

rs1553802038

Molecular consequence:

NM_001348424.1:c.2334_2335del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348425.2:c.2334_2335del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348426.2:c.2334_2335del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348427.2:c.2334_2335del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348428.2:c.2334_2335del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348429.2:c.2334_2335del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348430.2:c.2334_2335del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348431.2:c.2334_2335del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348432.2:c.2334_2335del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348433.2:c.2334_2335del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348434.2:c.2208_2209del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_021964.3:c.2334_2335del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000782569	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 11, 2017)	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

SCV000782569

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 11, 2017)

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	unknown	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 Mayo Clinic Laboratories, Mayo Clinic, SCV000782569.1

#	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	de novo	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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