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NM_021224.6(ZNF462):c.2977_2979delinsTGGTG (p.Pro993fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 17, 2018
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:
RCV000732897.4

Allele description [Variation Report for NM_021224.6(ZNF462):c.2977_2979delinsTGGTG (p.Pro993fs)]

NM_021224.6(ZNF462):c.2977_2979delinsTGGTG (p.Pro993fs)

Gene:
ZNF462:zinc finger protein 462 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
9q31.2
Genomic location:
Preferred name:
NM_021224.6(ZNF462):c.2977_2979delinsTGGTG (p.Pro993fs)
HGVS:
  • NC_000009.12:g.106926889_106926891delinsTGGTG
  • NG_052913.1:g.68793_68795delinsTGGTG
  • NM_001347997.2:c.2977_2979delinsTGGTG
  • NM_021224.6:c.2977_2979delinsTGGTGMANE SELECT
  • NP_001334926.1:p.Pro993fs
  • NP_067047.4:p.Pro993fs
  • NC_000009.11:g.109689170_109689172delinsTGGTG
Protein change:
P993fs
Links:
dbSNP: rs1564106503
NCBI 1000 Genomes Browser:
rs1564106503
Molecular consequence:
  • NM_001347997.2:c.2977_2979delinsTGGTG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_021224.6:c.2977_2979delinsTGGTG - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000860895Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)
Likely pathogenic
(Apr 17, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000860895.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 1, 2023