NM_001316979.2(ZBTB45):c.298C>G (p.Leu100Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 19, 2022
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:
RCV004154389.1

Allele description [Variation Report for NM_001316979.2(ZBTB45):c.298C>G (p.Leu100Val)]

NM_001316979.2(ZBTB45):c.298C>G (p.Leu100Val)

Gene:
ZBTB45:zinc finger and BTB domain containing 45 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.43
Genomic location:
Preferred name:
NM_001316979.2(ZBTB45):c.298C>G (p.Leu100Val)
HGVS:
  • NC_000019.10:g.58517376G>C
  • NM_001316978.2:c.298C>G
  • NM_001316979.2:c.298C>GMANE SELECT
  • NM_001316981.2:c.298C>G
  • NM_001316982.2:c.298C>G
  • NM_032792.4:c.298C>G
  • NP_001303907.1:p.Leu100Val
  • NP_001303908.1:p.Leu100Val
  • NP_001303910.1:p.Leu100Val
  • NP_001303911.1:p.Leu100Val
  • NP_116181.1:p.Leu100Val
  • NC_000019.9:g.59028743G>C
  • NM_032792.2:c.298C>G
Protein change:
L100V
Molecular consequence:
  • NM_001316978.2:c.298C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316979.2:c.298C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316981.2:c.298C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316982.2:c.298C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032792.4:c.298C>G - 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
SCV003627125Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 19, 2022) 		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, SCV003627125.2

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

Description

The c.298C>G (p.L100V) alteration is located in exon 2 (coding exon 1) of the ZBTB45 gene. This alteration results from a C to G substitution at nucleotide position 298, causing the leucine (L) at amino acid position 100 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 24, 2024