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NM_021224.6(ZNF462):c.3607C>T (p.Arg1203Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 13, 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:
RCV004489740.1

Allele description [Variation Report for NM_021224.6(ZNF462):c.3607C>T (p.Arg1203Trp)]

NM_021224.6(ZNF462):c.3607C>T (p.Arg1203Trp)

Gene:
ZNF462:zinc finger protein 462 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.2
Genomic location:
Preferred name:
NM_021224.6(ZNF462):c.3607C>T (p.Arg1203Trp)
HGVS:
  • NC_000009.12:g.106927519C>T
  • NG_052913.1:g.69423C>T
  • NM_001347997.2:c.3252+355C>T
  • NM_021224.6:c.3607C>TMANE SELECT
  • NP_067047.4:p.Arg1203Trp
  • NC_000009.11:g.109689800C>T
  • NM_021224.4:c.3607C>T
Protein change:
R1203W
Molecular consequence:
  • NM_001347997.2:c.3252+355C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_021224.6:c.3607C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004985975Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 13, 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, SCV004985975.1

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

Description

The c.3607C>T (p.R1203W) alteration is located in exon 3 (coding exon 2) of the ZNF462 gene. This alteration results from a C to T substitution at nucleotide position 3607, causing the arginine (R) at amino acid position 1203 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: May 7, 2024