GRCh37/hg19 14q32.2-32.31(chr14:99737888-101847855) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 1, 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:: RCV000767823.1

Allele description [Variation Report for GRCh37/hg19 14q32.2-32.31(chr14:99737888-101847855)]

GRCh37/hg19 14q32.2-32.31(chr14:99737888-101847855)

Genes:

EML1:EMAP like 1 [Gene - OMIM - HGNC]
EVL:Enah/Vasp-like [Gene - OMIM - HGNC]
HHIPL1:HHIP like 1 [Gene - HGNC]
SETD3:SET domain containing 3, actin histidine methyltransferase [Gene - OMIM - HGNC]
WDR25:WD repeat domain 25 [Gene - OMIM - HGNC]
YY1:YY1 transcription factor [Gene - OMIM - HGNC]
BEGAIN:brain enriched guanylate kinase associated [Gene - OMIM - HGNC]
CCDC85C:coiled-coil domain containing 85C [Gene - HGNC]
CCNK:cyclin K [Gene - OMIM - HGNC]
CYP46A1:cytochrome P450 family 46 subfamily A member 1 [Gene - OMIM - HGNC]
DEGS2:delta 4-desaturase, sphingolipid 2 [Gene - OMIM - HGNC]
DLK1:delta like non-canonical Notch ligand 1 [Gene - OMIM - HGNC]
MEG3:maternally expressed 3 [Gene - OMIM - HGNC]
MEG8:maternally expressed 8, small nucleolar RNA host gene [Gene - OMIM - HGNC]
MIR127:microRNA 127 [Gene - OMIM - HGNC]
MIR134:microRNA 134 [Gene - OMIM - HGNC]
MIR136:microRNA 136 [Gene - OMIM - HGNC]
MIR369:microRNA 369 [Gene - OMIM - HGNC]
MIR370:microRNA 370 [Gene - OMIM - HGNC]
MIR376A1:microRNA 376a-1 [Gene - OMIM - HGNC]
MIR376A2:microRNA 376a-2 [Gene - OMIM - HGNC]
MIR376B:microRNA 376b [Gene - OMIM - HGNC]
MIR376C:microRNA 376c [Gene - OMIM - HGNC]
MIR380:microRNA 380 [Gene - OMIM - HGNC]
MIR409:microRNA 409 [Gene - OMIM - HGNC]
MIR410:microRNA 410 [Gene - OMIM - HGNC]
MIR431:microRNA 431 [Gene - OMIM - HGNC]
MIR433:microRNA 433 [Gene - OMIM - HGNC]
MIR487B:microRNA 487b [Gene - OMIM - HGNC]
MIR495:microRNA 495 [Gene - OMIM - HGNC]
RTL1:retrotransposon Gag like 1 [Gene - OMIM - HGNC]
SNORD112:small nucleolar RNA, C/D box 112 [Gene - OMIM - HGNC]
SNORD113-1:small nucleolar RNA, C/D box 113-1 [Gene - OMIM - HGNC]
SNORD114-1:small nucleolar RNA, C/D box 114-1 [Gene - OMIM - HGNC]
SLC25A29:solute carrier family 25 member 29 [Gene - OMIM - HGNC]
SLC25A47:solute carrier family 25 member 47 [Gene - OMIM - HGNC]
WARS1:tryptophanyl-tRNA synthetase 1 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

14q32.2-32.31

Genomic location:

Chr14: 99737888 - 101847855 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 14q32.2-32.31(chr14:99737888-101847855)

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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om72h02.s1 NCI_CGAP_GC4 Homo sapiens cDNA clone IMAGE:1552755 3', mRNA sequence
om72h02.s1 NCI_CGAP_GC4 Homo sapiens cDNA clone IMAGE:1552755 3', mRNA sequence
gi|3076552|gnl|dbEST|1659418|gb|AA9 .1|

Nucleotide
zu90e08.s1 Soares_testis_NHT Homo sapiens cDNA clone IMAGE:745286 3', mRNA seque...
zu90e08.s1 Soares_testis_NHT Homo sapiens cDNA clone IMAGE:745286 3', mRNA sequence
gi|2537945|gnl|dbEST|1323302|gb|AA6 .1|

Nucleotide
Rattus norvegicus PHD finger protein 13 (Phf13), mRNA
Rattus norvegicus PHD finger protein 13 (Phf13), mRNA
gi|157819124|ref|NM_001107995.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000898445	Baylor Genetics	criteria provided, single submitter (ACMG CNV Guidelines, 2011)	Likely pathogenic (Nov 1, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000898445

Baylor Genetics

criteria provided, single submitter

(ACMG CNV Guidelines, 2011)

Likely pathogenic
(Nov 1, 2018)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]

PMID:: 21681106

Details of each submission

From Baylor Genetics, SCV000898445.1

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

Description

This CNV was detected in a symptomatic patient referred for CMA testing, but consent was not obtained to report individual clinical features

#	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	1	not provided

Last Updated: Apr 23, 2022

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