GRCh37/hg19 14q31.3(chr14:88400251-88422569)x1 AND not specified

Germline classification:: Pathogenic (1 submission)
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:: RCV003987043.1

Allele description [Variation Report for GRCh37/hg19 14q31.3(chr14:88400251-88422569)x1]

GRCh37/hg19 14q31.3(chr14:88400251-88422569)x1

Gene:: GALC:galactosylceramidase [Gene - OMIM - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 14q31.3
Genomic location:: Chr14: 88400251 - 88422569 (on Assembly GRCh37)
Preferred name:: GRCh37/hg19 14q31.3(chr14:88400251-88422569)x1
HGVS:: NC_000014.8:g.(?_88400251)_(88422569_?)del
This HGVS expression did not pass validation
Links:: dbVar: nssv13645822; dbVar: nssv13645953; dbVar: nssv13646300; dbVar: nsv2769867
Observations:: 1

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004801975	ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories	criteria provided, single submitter (Constitutional Copy Number Variant Assertion Criteria)	Pathogenic	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004801975

ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories

criteria provided, single submitter

(Constitutional Copy Number Variant Assertion Criteria)

Pathogenic

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV004801975.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Mar 30, 2024

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