Single allele AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 5, 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:: RCV000677923.2

Allele description [Variation Report for Single allele]

Genes:: PDLIM5:PDZ and LIM domain 5 [Gene - OMIM - HGNC]
BMPR1B:bone morphogenetic protein receptor type 1B [Gene - OMIM - HGNC]
UNC5C:unc-5 netrin receptor C [Gene - OMIM - HGNC]
Variant type:: Duplication
Cytogenetic location:: 4q22.3
Genomic location:: Chr4: 95492115 - 96091575 (on Assembly GRCh37)
HGVS:: NC_000004.11:g.95492115_96091575dup
This HGVS expression did not pass validation

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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nucleosome assembly protein 1-like 4 [Rattus norvegicus]
nucleosome assembly protein 1-like 4 [Rattus norvegicus]
gi|58865912|ref|NP_001012170.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000804078	Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	criteria provided, single submitter (ACMG CNV Guidelines, 2011)	Likely benign (Feb 5, 2018)	paternal	provider interpretation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000804078

Geisinger Autism and Developmental Medicine Institute, Geisinger Health System

criteria provided, single submitter

(ACMG CNV Guidelines, 2011)

Likely benign
(Feb 5, 2018)

paternal

provider interpretation

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	paternal	unknown	not provided	not provided	not provided	not provided	not provided	provider interpretation

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 Geisinger Autism and Developmental Medicine Institute, Geisinger Health System, SCV000804078.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	provider interpretation	PubMed (1)

Description

This duplication was identified in a 4 year old female with global developmental delays, macrocephaly, telecanthus, and a wide based gait. It was inherited from a clinically unaffected father. In addition, this patient carries a de novo, likely pathogenic deletion at 1q21.3.

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

Last Updated: Dec 11, 2022

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