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NM_001145720.2(ZBTB8B):c.500G>T (p.Gly167Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 30, 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:
RCV004326523.1

Allele description [Variation Report for NM_001145720.2(ZBTB8B):c.500G>T (p.Gly167Val)]

NM_001145720.2(ZBTB8B):c.500G>T (p.Gly167Val)

Gene:
ZBTB8B:zinc finger and BTB domain containing 8B [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p35.1
Genomic location:
Preferred name:
NM_001145720.2(ZBTB8B):c.500G>T (p.Gly167Val)
HGVS:
  • NC_000001.11:g.32471124G>T
  • NM_001145720.2:c.500G>TMANE SELECT
  • NP_001139192.1:p.Gly167Val
  • NC_000001.10:g.32936725G>T
  • NM_001145720.1:c.500G>T
Protein change:
G167V
Molecular consequence:
  • NM_001145720.2:c.500G>T - 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
SCV003983778Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 30, 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, SCV003983778.2

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

Description

The c.500G>T (p.G167V) alteration is located in exon 2 (coding exon 1) of the ZBTB8B gene. This alteration results from a G to T substitution at nucleotide position 500, causing the glycine (G) at amino acid position 167 to be replaced by a valine (V). 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 3, 2024