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NM_001136501.3(ZNF844):c.1044_1048del (p.Tyr348_Asn350delinsTer) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000845101.1

Allele description [Variation Report for NM_001136501.3(ZNF844):c.1044_1048del (p.Tyr348_Asn350delinsTer)]

NM_001136501.3(ZNF844):c.1044_1048del (p.Tyr348_Asn350delinsTer)

Gene:
ZNF844:zinc finger protein 844 [Gene - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_001136501.3(ZNF844):c.1044_1048del (p.Tyr348_Asn350delinsTer)
HGVS:
  • NC_000019.10:g.12076159TCTTA[1]
  • NC_000019.10:g.12076159_12076163TCTTA[1]
  • NM_001136501.3:c.1044_1048delMANE SELECT
  • NP_001129973.1:p.Tyr348_Asn350delinsTer
  • NC_000019.9:g.12186974TCTTA[1]
  • NC_000019.9:g.12186979_12186983delTCTTA
  • NR_134326.2:n.1121TCTTA[1]
Links:
dbSNP: rs372628445
NCBI 1000 Genomes Browser:
rs372628445
Molecular consequence:
  • NR_134326.2:n.1121TCTTA[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001136501.3:c.1044_1048del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000986953GenomeConnect, ClinGen
no classification provided
not providedgermlinephenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000986953.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpretted as uncertain significance and reported on 07/06/2015 by GTR ID 1006.GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022