U.S. flag

An official website of the United States government

NM_021964.3(ZNF148):c.845A>G (p.Asp282Gly) AND Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 11, 2018
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:
RCV000995682.5

Allele description [Variation Report for NM_021964.3(ZNF148):c.845A>G (p.Asp282Gly)]

NM_021964.3(ZNF148):c.845A>G (p.Asp282Gly)

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.845A>G (p.Asp282Gly)
HGVS:
  • NC_000003.12:g.125233881T>C
  • NG_052987.1:g.146474A>G
  • NM_001348424.1:c.845A>G
  • NM_001348425.2:c.845A>G
  • NM_001348426.2:c.845A>G
  • NM_001348427.2:c.845A>G
  • NM_001348428.2:c.845A>G
  • NM_001348429.2:c.845A>G
  • NM_001348430.2:c.845A>G
  • NM_001348431.2:c.845A>G
  • NM_001348432.2:c.845A>G
  • NM_001348433.2:c.845A>G
  • NM_001348434.2:c.719A>G
  • NM_021964.3:c.845A>GMANE SELECT
  • NP_001335353.1:p.Asp282Gly
  • NP_001335354.1:p.Asp282Gly
  • NP_001335355.1:p.Asp282Gly
  • NP_001335356.1:p.Asp282Gly
  • NP_001335357.1:p.Asp282Gly
  • NP_001335358.1:p.Asp282Gly
  • NP_001335359.1:p.Asp282Gly
  • NP_001335360.1:p.Asp282Gly
  • NP_001335361.1:p.Asp282Gly
  • NP_001335362.1:p.Asp282Gly
  • NP_001335363.1:p.Asp240Gly
  • NP_068799.2:p.Asp282Gly
  • NC_000003.11:g.124952725T>C
Protein change:
D240G
Links:
dbSNP: rs1579578234
NCBI 1000 Genomes Browser:
rs1579578234
Molecular consequence:
  • NM_001348424.1:c.845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348425.2:c.845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348426.2:c.845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348427.2:c.845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348428.2:c.845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348429.2:c.845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348430.2:c.845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348431.2:c.845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348432.2:c.845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348433.2:c.845A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348434.2:c.719A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021964.3:c.845A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001149991Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)		Likely pathogenic
(Dec 11, 2018) 		de novoclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedclinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV001149991.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1bloodnot provided1not providednot providednot provided

Last Updated: Jun 23, 2024