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NM_021646.4(ZNF500):c.787G>A (p.Gly263Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 11, 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:
RCV004145608.1

Allele description [Variation Report for NM_021646.4(ZNF500):c.787G>A (p.Gly263Ser)]

NM_021646.4(ZNF500):c.787G>A (p.Gly263Ser)

Gene:
ZNF500:zinc finger protein 500 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_021646.4(ZNF500):c.787G>A (p.Gly263Ser)
HGVS:
  • NC_000016.10:g.4753032C>T
  • NM_001303450.2:c.787G>A
  • NM_021646.4:c.787G>AMANE SELECT
  • NP_001290379.1:p.Gly263Ser
  • NP_067678.1:p.Gly263Ser
  • NC_000016.9:g.4803033C>T
  • NM_021646.1:c.787G>A
Protein change:
G263S
Molecular consequence:
  • NM_001303450.2:c.787G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021646.4:c.787G>A - 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
SCV003620677Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 11, 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, SCV003620677.2

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

Description

The c.787G>A (p.G263S) alteration is located in exon 6 (coding exon 5) of the ZNF500 gene. This alteration results from a G to A substitution at nucleotide position 787, causing the glycine (G) at amino acid position 263 to be replaced by a serine (S). 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