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GRCh37/hg19 1p36.32(chr1:2397432-2812958)x1 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 20, 2018
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:
RCV000684538.1

Allele description [Variation Report for GRCh37/hg19 1p36.32(chr1:2397432-2812958)x1]

GRCh37/hg19 1p36.32(chr1:2397432-2812958)x1

Genes:
  • TNFRSF14:TNF receptor superfamily member 14 [Gene - OMIM - HGNC]
  • HES5:hes family bHLH transcription factor 5 [Gene - OMIM - HGNC]
  • MMEL1:membrane metalloendopeptidase like 1 [Gene - OMIM - HGNC]
  • PANK4:pantothenate kinase 4 (inactive) [Gene - OMIM - HGNC]
  • PRXL2B:peroxiredoxin like 2B [Gene - HGNC]
  • PLCH2:phospholipase C eta 2 [Gene - OMIM - HGNC]
  • TTC34:tetratricopeptide repeat domain 34 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1p36.32
Genomic location:
Chr1: 2397432 - 2812958 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1p36.32(chr1:2397432-2812958)x1
HGVS:
NC_000001.10:g.(?_2397432)_(2812958_?)del

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
SCV000812061Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Uncertain significance
(Jan 20, 2018) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000812061.1

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

Last Updated: Mar 26, 2023