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NM_001002836.4(ZNF787):c.878C>T (p.Ala293Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 14, 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:
RCV004249968.1

Allele description [Variation Report for NM_001002836.4(ZNF787):c.878C>T (p.Ala293Val)]

NM_001002836.4(ZNF787):c.878C>T (p.Ala293Val)

Gene:
ZNF787:zinc finger protein 787 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.43
Genomic location:
Preferred name:
NM_001002836.4(ZNF787):c.878C>T (p.Ala293Val)
HGVS:
  • NC_000019.10:g.56088294G>A
  • NG_054921.1:g.38080C>T
  • NM_001002836.4:c.878C>TMANE SELECT
  • NP_001002836.2:p.Ala293Val
  • NC_000019.9:g.56599663G>A
  • NM_001002836.2:c.878C>T
Protein change:
A293V
Molecular consequence:
  • NM_001002836.4:c.878C>T - 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
SCV003867439Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 14, 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, SCV003867439.2

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

Description

The c.878C>T (p.A293V) alteration is located in exon 3 (coding exon 2) of the ZNF787 gene. This alteration results from a C to T substitution at nucleotide position 878, causing the alanine (A) at amino acid position 293 to be replaced by a valine (V). 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 3, 2024