GRCh37/hg19 17q21.31(chr17:42969980-42993118)x1 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 31, 2017
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:: RCV000515596.3

Allele description [Variation Report for GRCh37/hg19 17q21.31(chr17:42969980-42993118)x1]

GRCh37/hg19 17q21.31(chr17:42969980-42993118)x1

Genes:: CCDC103:coiled-coil domain containing 103 [Gene - OMIM - HGNC]
EFTUD2:elongation factor Tu GTP binding domain containing 2 [Gene - OMIM - HGNC]
GFAP:glial fibrillary acidic protein [Gene - OMIM - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 17q21.31
Genomic location:: Chr17: 42969980 - 42993118 (on Assembly GRCh37)
Preferred name:: GRCh37/hg19 17q21.31(chr17:42969980-42993118)x1
HGVS:: NC_000017.10:g.(?_42969980)_(42993118_?)del
This HGVS expression did not pass validation
Observations:: 1

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000611658	Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington	criteria provided, single submitter (Clinical Cytogenomics Laboratory Policy on CNV Interpretation)	Pathogenic (Mar 31, 2017)	de novo	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24266672, 26507355, 24470203 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000611658

Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington

criteria provided, single submitter

(Clinical Cytogenomics Laboratory Policy on CNV Interpretation)

Pathogenic
(Mar 31, 2017)

de novo

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.

Gandomi SK, Parra M, Reeves D, Yap V, Gau CL.

Clin Genet. 2015;87(1):80-4. doi: 10.1111/cge.12328. Epub 2013 Dec 20.

PubMed [citation]

PMID:: 24266672

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, et al.

Hum Mutat. 2016 Feb;37(2):148-54. doi: 10.1002/humu.22924. Epub 2015 Nov 19. Review.

PubMed [citation]

PMID:: 26507355
PMCID:: PMC5512564

See all PubMed Citations (3)

Details of each submission

From Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington, SCV000611658.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	Amniocytes	not provided		1	not provided	1	not provided

Last Updated: Dec 11, 2022

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