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GRCh37/hg19 1q41(chr1:217748650-217893701)x1 AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 23, 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:
RCV000762741.3

Allele description [Variation Report for GRCh37/hg19 1q41(chr1:217748650-217893701)x1]

GRCh37/hg19 1q41(chr1:217748650-217893701)x1

Genes:
GPATCH2:G-patch domain containing 2 [Gene - OMIM - HGNC]
SPATA17:spermatogenesis associated 17 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1q41
Genomic location:
Chr1: 217748650 - 217893701 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1q41(chr1:217748650-217893701)x1
HGVS:
NC_000001.10:g.(?_217748650)_(217893701_?)del
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000893077CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)		Likely benign
(May 23, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000893077.2

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

Last Updated: Dec 24, 2022