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NM_206894.4(ZNF790):c.1267G>C (p.Glu423Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 31, 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:
RCV004492813.1

Allele description [Variation Report for NM_206894.4(ZNF790):c.1267G>C (p.Glu423Gln)]

NM_206894.4(ZNF790):c.1267G>C (p.Glu423Gln)

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.1267G>C (p.Glu423Gln)
HGVS:
  • NC_000019.10:g.36819077C>G
  • NM_001242800.2:c.1267G>C
  • NM_001242801.2:c.1267G>C
  • NM_001242802.2:c.1267G>C
  • NM_206894.4:c.1267G>CMANE SELECT
  • NP_001229729.1:p.Glu423Gln
  • NP_001229730.1:p.Glu423Gln
  • NP_001229731.1:p.Glu423Gln
  • NP_996777.2:p.Glu423Gln
  • NC_000019.9:g.37309979C>G
  • NM_001242802.1:c.1267G>C
Protein change:
E423Q
Molecular consequence:
  • NM_001242800.2:c.1267G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242801.2:c.1267G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242802.2:c.1267G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206894.4:c.1267G>C - 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
SCV004987936Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 31, 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, SCV004987936.1

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

Description

The c.1267G>C (p.E423Q) alteration is located in exon 5 (coding exon 4) of the ZNF790 gene. This alteration results from a G to C substitution at nucleotide position 1267, causing the glutamic acid (E) at amino acid position 423 to be replaced by a glutamine (Q). 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