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NM_014838.3(ZBED4):c.1432C>T (p.Arg478Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 26, 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:
RCV004156650.1

Allele description [Variation Report for NM_014838.3(ZBED4):c.1432C>T (p.Arg478Trp)]

NM_014838.3(ZBED4):c.1432C>T (p.Arg478Trp)

Genes:
ALG12:ALG12 alpha-1,6-mannosyltransferase [Gene - OMIM - HGNC]
ZBED4:zinc finger BED-type containing 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_014838.3(ZBED4):c.1432C>T (p.Arg478Trp)
HGVS:
  • NC_000022.11:g.49885094C>T
  • NM_014838.3:c.1432C>TMANE SELECT
  • NP_055653.2:p.Arg478Trp
  • NC_000022.10:g.50278742C>T
  • NM_014838.2:c.1432C>T
Protein change:
R478W
Molecular consequence:
  • NM_014838.3:c.1432C>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
SCV003647991Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 26, 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, SCV003647991.2

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

Description

The c.1432C>T (p.R478W) alteration is located in exon 2 (coding exon 1) of the ZBED4 gene. This alteration results from a C to T substitution at nucleotide position 1432, causing the arginine (R) at amino acid position 478 to be replaced by a tryptophan (W). 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