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NM_014415.4(ZBTB11):c.11A>G (p.Glu4Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 20, 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:
RCV004478752.1

Allele description [Variation Report for NM_014415.4(ZBTB11):c.11A>G (p.Glu4Gly)]

NM_014415.4(ZBTB11):c.11A>G (p.Glu4Gly)

Genes:
ZBTB11-AS1:ZBTB11 antisense RNA 1 [Gene - HGNC]
ZBTB11:zinc finger and BTB domain containing 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q12.3
Genomic location:
Preferred name:
NM_014415.4(ZBTB11):c.11A>G (p.Glu4Gly)
HGVS:
  • NC_000003.12:g.101676904T>C
  • NG_100154.1:g.735T>C
  • NG_100154.2:g.821T>C
  • NM_014415.4:c.11A>GMANE SELECT
  • NP_055230.2:p.Glu4Gly
  • NC_000003.11:g.101395748T>C
  • NM_014415.3:c.11A>G
  • NR_024407.1:n.475T>C
Protein change:
E4G
Molecular consequence:
  • NM_014415.4:c.11A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_024407.1:n.475T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004981381Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 20, 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, SCV004981381.1

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

Description

The c.11A>G (p.E4G) alteration is located in exon 1 (coding exon 1) of the ZBTB11 gene. This alteration results from a A to G substitution at nucleotide position 11, causing the glutamic acid (E) at amino acid position 4 to be replaced by a glycine (G). 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: May 7, 2024