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NM_001348800.3(ZBTB20):c.152C>G (p.Ser51Ter) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 14, 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:
RCV000481937.3

Allele description [Variation Report for NM_001348800.3(ZBTB20):c.152C>G (p.Ser51Ter)]

NM_001348800.3(ZBTB20):c.152C>G (p.Ser51Ter)

Genes:
ZBTB20-AS1:ZBTB20 antisense RNA 1 [Gene - HGNC]
ZBTB20:zinc finger and BTB domain containing 20 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q13.31
Genomic location:
Preferred name:
NM_001348800.3(ZBTB20):c.152C>G (p.Ser51Ter)
HGVS:
  • NC_000003.12:g.114380264G>C
  • NG_052992.1:g.772017C>G
  • NM_001164342.2:c.152C>G
  • NM_001164343.2:c.-68C>G
  • NM_001164344.4:c.-68C>G
  • NM_001164345.4:c.-68C>G
  • NM_001164346.2:c.-68C>G
  • NM_001164347.2:c.-68C>G
  • NM_001348800.3:c.152C>GMANE SELECT
  • NM_001348801.3:c.-68C>G
  • NM_001348802.3:c.-68C>G
  • NM_001348803.3:c.152C>G
  • NM_001348804.3:c.-68C>G
  • NM_001348805.3:c.-68C>G
  • NM_001393393.1:c.152C>G
  • NM_001393394.1:c.152C>G
  • NM_001393395.1:c.-68C>G
  • NM_001393396.1:c.-68C>G
  • NM_015642.7:c.-68C>G
  • NP_001157814.1:p.Ser51Ter
  • NP_001335729.1:p.Ser51Ter
  • NP_001335732.1:p.Ser51Ter
  • NP_001380322.1:p.Ser51Ter
  • NP_001380323.1:p.Ser51Ter
  • NC_000003.11:g.114099111G>C
  • NR_121662.3:n.422C>G
Protein change:
S51*
Links:
dbSNP: rs1064796308
NCBI 1000 Genomes Browser:
rs1064796308
Molecular consequence:
  • NM_001164343.2:c.-68C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001164344.4:c.-68C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001164345.4:c.-68C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001164346.2:c.-68C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001164347.2:c.-68C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001348801.3:c.-68C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001348802.3:c.-68C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001348804.3:c.-68C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001348805.3:c.-68C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001393395.1:c.-68C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001393396.1:c.-68C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_015642.7:c.-68C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_121662.3:n.422C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001164342.2:c.152C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348800.3:c.152C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348803.3:c.152C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001393393.1:c.152C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001393394.1:c.152C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000572896GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Uncertain significance
(Aug 14, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000572896.4

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

Description

A variant of uncertain significance has been identified in the ZBTB20 gene. The S51X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The S51X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Sep 30, 2023