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NM_133444.3(ZNF526):c.619G>A (p.Ala207Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 12, 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:
RCV002902678.2

Allele description [Variation Report for NM_133444.3(ZNF526):c.619G>A (p.Ala207Thr)]

NM_133444.3(ZNF526):c.619G>A (p.Ala207Thr)

Gene:
ZNF526:zinc finger protein 526 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_133444.3(ZNF526):c.619G>A (p.Ala207Thr)
HGVS:
  • NC_000019.10:g.42225022G>A
  • NG_053183.1:g.9752G>A
  • NM_001314033.3:c.619G>A
  • NM_133444.3:c.619G>AMANE SELECT
  • NP_001300962.1:p.Ala207Thr
  • NP_597701.1:p.Ala207Thr
  • NC_000019.9:g.42729174G>A
  • NM_133444.1:c.619G>A
Protein change:
A207T
Molecular consequence:
  • NM_001314033.3:c.619G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133444.3:c.619G>A - 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
SCV003646029Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 12, 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, SCV003646029.2

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

Description

The c.619G>A (p.A207T) alteration is located in exon 3 (coding exon 1) of the ZNF526 gene. This alteration results from a G to A substitution at nucleotide position 619, causing the alanine (A) at amino acid position 207 to be replaced by a threonine (T). 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 1, 2024