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NM_206894.4(ZNF790):c.1529A>G (p.Glu510Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 18, 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:
RCV004204318.1

Allele description [Variation Report for NM_206894.4(ZNF790):c.1529A>G (p.Glu510Gly)]

NM_206894.4(ZNF790):c.1529A>G (p.Glu510Gly)

Genes:
ZNF790-AS1:ZNF790 antisense RNA 1 [Gene - HGNC]
ZNF790:zinc finger protein 790 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.12
Genomic location:
Preferred name:
NM_206894.4(ZNF790):c.1529A>G (p.Glu510Gly)
HGVS:
  • NC_000019.10:g.36818815T>C
  • NM_001242800.2:c.1529A>G
  • NM_001242801.2:c.1529A>G
  • NM_001242802.2:c.1529A>G
  • NM_206894.4:c.1529A>GMANE SELECT
  • NP_001229729.1:p.Glu510Gly
  • NP_001229730.1:p.Glu510Gly
  • NP_001229731.1:p.Glu510Gly
  • NP_996777.2:p.Glu510Gly
  • NC_000019.9:g.37309717T>C
  • NM_001242802.1:c.1529A>G
Protein change:
E510G
Molecular consequence:
  • NM_001242800.2:c.1529A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242801.2:c.1529A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242802.2:c.1529A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206894.4:c.1529A>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
SCV003697647Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 18, 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, SCV003697647.2

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

Description

The c.1529A>G (p.E510G) alteration is located in exon 5 (coding exon 4) of the ZNF790 gene. This alteration results from a A to G substitution at nucleotide position 1529, causing the glutamic acid (E) at amino acid position 510 to be replaced by a glycine (G). 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: Oct 26, 2024