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NM_015898.4(ZBTB7A):c.1588del (p.Arg530fs) AND Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 28, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001840944.1

Allele description [Variation Report for NM_015898.4(ZBTB7A):c.1588del (p.Arg530fs)]

NM_015898.4(ZBTB7A):c.1588del (p.Arg530fs)

Gene:
ZBTB7A:zinc finger and BTB domain containing 7A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_015898.4(ZBTB7A):c.1588del (p.Arg530fs)
HGVS:
  • NC_000019.10:g.4047921del
  • NM_001317990.2:c.1588del
  • NM_015898.4:c.1588delMANE SELECT
  • NP_001304919.1:p.Arg530fs
  • NP_056982.1:p.Arg530fs
  • NC_000019.9:g.4047919del
Protein change:
R530fs
Links:
OMIM: 605878.0005; dbSNP: rs2144972709
NCBI 1000 Genomes Browser:
rs2144972709
Molecular consequence:
  • NM_001317990.2:c.1588del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015898.4:c.1588del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MNDLFH)
Identifiers:
MONDO: MONDO:0859231; MedGen: C5676928; OMIM: 619769

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002099762OMIM
no assertion criteria provided
Pathogenic
(Feb 28, 2022) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.

von der Lippe C, Tveten K, Prescott TE, Holla ØL, Busk ØL, Burke KB, Sansbury FH, Baptista J, Fry AE, Lim D, Jolles S, Evans J, Osio D, Macmillan C, Bruno I, Faletra F, Climent S, Urreitzi R, Hoenicka J, Palau F, Cohen ASA, Engleman K, et al.

Am J Med Genet A. 2022 Jan;188(1):272-282. doi: 10.1002/ajmg.a.62492. Epub 2021 Sep 13. Erratum in: Am J Med Genet A. 2022 Jun;188(6):1930. doi: 10.1002/ajmg.a.62711.

PubMed [citation]
PMID:
34515416

Details of each submission

From OMIM, SCV002099762.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an 11-year-old boy (individual 4) with macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MNDLFH; 619769), von der Lippe et al. (2022) identified heterozygosity for a de novo 1-bp deletion (c.1588del, NM_015898.4) in exon 3 of the ZBTB7A gene, causing a frameshift predicted to result in a premature termination codon (Arg530GlyfsTer27). The mutation was not found in the gnomAD database.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023