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NM_006361.6(HOXB13):c.665del (p.Pro222fs) AND Prostate cancer, hereditary, 1

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000856446.1

Allele description [Variation Report for NM_006361.6(HOXB13):c.665del (p.Pro222fs)]

NM_006361.6(HOXB13):c.665del (p.Pro222fs)

Gene:
HOXB13:homeobox B13 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.32
Genomic location:
Preferred name:
NM_006361.6(HOXB13):c.665del (p.Pro222fs)
HGVS:
  • NC_000017.11:g.48726981del
  • NG_033789.1:g.6770del
  • NM_006361.6:c.665delMANE SELECT
  • NP_006352.2:p.Pro222fs
  • LRG_771:g.6770del
  • NC_000017.10:g.46804343del
  • NM_006361.5:c.665delC
Protein change:
P222fs
Links:
dbSNP: rs1597932866
NCBI 1000 Genomes Browser:
rs1597932866
Molecular consequence:
  • NM_006361.6:c.665del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Prostate cancer, hereditary, 1 (HPC1)
Identifiers:
MONDO: MONDO:0011098; MedGen: C4722327; Orphanet: 1331; OMIM: 601518

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000994437Laboratory of Virology, Microbiology, Quality and Medical Biotechnologies, Faculty of Sciences and Techniques - Mohammedia, Hassan II University of Casablanca
no assertion criteria provided
Uncertain significancesomaticclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Laboratory of Virology, Microbiology, Quality and Medical Biotechnologies, Faculty of Sciences and Techniques - Mohammedia, Hassan II University of Casablanca, SCV000994437.1

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

Last Updated: Apr 23, 2022