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NM_001128833.2(ZBTB4):c.2111G>A (p.Arg704Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 7, 2023
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:
RCV004291322.1

Allele description [Variation Report for NM_001128833.2(ZBTB4):c.2111G>A (p.Arg704Gln)]

NM_001128833.2(ZBTB4):c.2111G>A (p.Arg704Gln)

Gene:
ZBTB4:zinc finger and BTB domain containing 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_001128833.2(ZBTB4):c.2111G>A (p.Arg704Gln)
HGVS:
  • NC_000017.11:g.7462871C>T
  • NM_001128833.2:c.2111G>AMANE SELECT
  • NM_020899.4:c.2111G>A
  • NP_001122305.1:p.Arg704Gln
  • NP_065950.2:p.Arg704Gln
  • NC_000017.10:g.7366190C>T
  • NM_020899.3:c.2111G>A
Protein change:
R704Q
Molecular consequence:
  • NM_001128833.2:c.2111G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020899.4:c.2111G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003939762Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 7, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003939762.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.2111G>A (p.R704Q) alteration is located in exon 4 (coding exon 2) of the ZBTB4 gene. This alteration results from a G to A substitution at nucleotide position 2111, causing the arginine (R) at amino acid position 704 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024