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GRCh38/hg38 1q44(chr1:246386899-248918469)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
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:
RCV000054068.4

Allele description

GRCh38/hg38 1q44(chr1:246386899-248918469)x1

Genes:
  • AHCTF1:AT-hook containing transcription factor 1 [Gene - OMIM - HGNC]
  • GCSAML-AS1:GCSAML antisense RNA 1 [Gene - HGNC]
  • LYPD8:LY6/PLAUR domain containing 8 [Gene - OMIM - HGNC]
  • NLRP3:NLR family pyrin domain containing 3 [Gene - OMIM - HGNC]
  • SMYD3:SET and MYND domain containing 3 [Gene - OMIM - HGNC]
  • SH3BP5L:SH3 binding domain protein 5 like [Gene - HGNC]
  • ZNF670-ZNF695:ZNF670-ZNF695 readthrough (NMD candidate) [Gene - HGNC]
  • C1orf229:chromosome 1 open reading frame 229 [Gene - HGNC]
  • CNST:consortin, connexin sorting protein [Gene - OMIM - HGNC]
  • GCSAML:germinal center associated signaling and motility like [Gene - HGNC]
  • KIF28P:kinesin family member 28, pseudogene [Gene - HGNC]
  • LINC01341:long intergenic non-protein coding RNA 1341 [Gene - HGNC]
  • LINC01743:long intergenic non-protein coding RNA 1743 [Gene - HGNC]
  • MIR3124:microRNA 3124 [Gene - HGNC]
  • MIR3916:microRNA 3916 [Gene - HGNC]
  • OR1C1:olfactory receptor family 1 subfamily C member 1 [Gene - HGNC]
  • OR11L1:olfactory receptor family 11 subfamily L member 1 [Gene - HGNC]
  • OR13G1:olfactory receptor family 13 subfamily G member 1 [Gene - OMIM - HGNC]
  • OR14A16:olfactory receptor family 14 subfamily A member 16 [Gene - HGNC]
  • OR14A2:olfactory receptor family 14 subfamily A member 2 [Gene - HGNC]
  • OR14C36:olfactory receptor family 14 subfamily C member 36 [Gene - HGNC]
  • OR14I1:olfactory receptor family 14 subfamily I member 1 [Gene - HGNC]
  • OR2AJ1:olfactory receptor family 2 subfamily AJ member 1 [Gene - HGNC]
  • OR2AK2:olfactory receptor family 2 subfamily AK member 2 [Gene - HGNC]
  • OR2B11:olfactory receptor family 2 subfamily B member 11 [Gene - HGNC]
  • OR2C3:olfactory receptor family 2 subfamily C member 3 [Gene - HGNC]
  • OR2G2:olfactory receptor family 2 subfamily G member 2 [Gene - HGNC]
  • OR2G3:olfactory receptor family 2 subfamily G member 3 [Gene - HGNC]
  • OR2G6:olfactory receptor family 2 subfamily G member 6 [Gene - HGNC]
  • OR2L13:olfactory receptor family 2 subfamily L member 13 [Gene - HGNC]
  • OR2L2:olfactory receptor family 2 subfamily L member 2 [Gene - HGNC]
  • OR2L3:olfactory receptor family 2 subfamily L member 3 [Gene - HGNC]
  • OR2L5:olfactory receptor family 2 subfamily L member 5 [Gene - HGNC]
  • OR2L8:olfactory receptor family 2 subfamily L member 8 (gene/pseudogene) [Gene - HGNC]
  • OR2M2:olfactory receptor family 2 subfamily M member 2 [Gene - HGNC]
  • OR2M3:olfactory receptor family 2 subfamily M member 3 [Gene - HGNC]
  • OR2M4:olfactory receptor family 2 subfamily M member 4 [Gene - HGNC]
  • OR2M5:olfactory receptor family 2 subfamily M member 5 [Gene - HGNC]
  • OR2M7:olfactory receptor family 2 subfamily M member 7 [Gene - HGNC]
  • OR2T10:olfactory receptor family 2 subfamily T member 10 [Gene - HGNC]
  • OR2T11:olfactory receptor family 2 subfamily T member 11 (gene/pseudogene) [Gene - HGNC]
  • OR2T12:olfactory receptor family 2 subfamily T member 12 [Gene - HGNC]
  • OR2T1:olfactory receptor family 2 subfamily T member 1 [Gene - HGNC]
  • OR2T27:olfactory receptor family 2 subfamily T member 27 [Gene - HGNC]
  • OR2T29:olfactory receptor family 2 subfamily T member 29 [Gene - HGNC]
  • OR2T2:olfactory receptor family 2 subfamily T member 2 [Gene - HGNC]
  • OR2T33:olfactory receptor family 2 subfamily T member 33 [Gene - HGNC]
  • OR2T34:olfactory receptor family 2 subfamily T member 34 [Gene - HGNC]
  • OR2T35:olfactory receptor family 2 subfamily T member 35 [Gene - HGNC]
  • OR2T3:olfactory receptor family 2 subfamily T member 3 [Gene - HGNC]
  • OR2T4:olfactory receptor family 2 subfamily T member 4 [Gene - HGNC]
  • OR2T5:olfactory receptor family 2 subfamily T member 5 [Gene - HGNC]
  • OR2T6:olfactory receptor family 2 subfamily T member 6 [Gene - HGNC]
  • OR2T7:olfactory receptor family 2 subfamily T member 7 [Gene - HGNC]
  • OR2T8:olfactory receptor family 2 subfamily T member 8 [Gene - HGNC]
  • OR2W3:olfactory receptor family 2 subfamily W member 3 [Gene - OMIM - HGNC]
  • OR2W5:olfactory receptor family 2 subfamily W member 5 (gene/pseudogene) [Gene - HGNC]
  • OR6F1:olfactory receptor family 6 subfamily F member 1 [Gene - HGNC]
  • PGBD2:piggyBac transposable element derived 2 [Gene - HGNC]
  • SCCPDH:saccharopine dehydrogenase (putative) [Gene - HGNC]
  • TFB2M:transcription factor B2, mitochondrial [Gene - OMIM - HGNC]
  • TRE-CTC2-1:transfer RNA-Glu (CTC) 2-1 [Gene - HGNC]
  • TRL-CAA4-1:transfer RNA-Leu (CAA) 4-1 [Gene - HGNC]
  • TRIM58:tripartite motif containing 58 [Gene - HGNC]
  • LOC101928226:uncharacterized LOC101928226 [Gene]
  • FLJ39095:uncharacterized LOC400812 [Gene]
  • VN1R5:vomeronasal 1 receptor 5 (gene/pseudogene) [Gene - HGNC]
  • ZNF124:zinc finger protein 124 [Gene - OMIM - HGNC]
  • ZNF496:zinc finger protein 496 [Gene - OMIM - HGNC]
  • ZNF669:zinc finger protein 669 [Gene - HGNC]
  • ZNF670:zinc finger protein 670 [Gene - HGNC]
  • ZNF672:zinc finger protein 672 [Gene - HGNC]
  • ZNF692:zinc finger protein 692 [Gene - HGNC]
  • ZNF695:zinc finger protein 695 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1q44
Genomic location:
Preferred name:
GRCh38/hg38 1q44(chr1:246386899-248918469)x1
HGVS:
  • NC_000001.11:g.(?_246386899)_(248918469_?)del
  • NC_000001.10:g.(?_246550201)_(249212668_?)del
  • NC_000001.9:g.(?_244616824)_(247179291_?)del
Links:
dbVar: nssv577279; dbVar: nsv532736
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000081432ISCA site 1

See additional submitters

criteria provided, single submitter

(Submitter's publication)		Pathogenic
(Aug 12, 2011) 		not providedclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 1, SCV000081432.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Sep 15, 2017