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GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623) AND not provided

Germline classification:
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:
RCV000767621.1

Allele description [Variation Report for GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)]

GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)

Genes:
Variant type:
copy number gain
Cytogenetic location:
1q24.2-25.3
Genomic location:
Chr1: 169423492 - 180367623 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000898243Baylor Genetics
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)
Pathogenic
(Nov 1, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providednot providedclinical 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, SCV000898243.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Duplications involving this region have been previously reported in patients with microcephaly and proportionate growth deficiency, cognitive disability, dysmorphisms (PMID 21548129, 18925675)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided

Last Updated: Oct 14, 2023