NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) AND not specified

Germline classification:: Benign/Likely benign (4 submissions)
Last evaluated:: Apr 9, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000036942.10

Allele description [Variation Report for NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup)]

NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup)

Gene:

RBM20:RNA binding motif protein 20 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

10q25.2

Genomic location:

Preferred name:

NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup)

Other names:

p.Gln43_Pro44insGln

HGVS:

NC_000010.10:g.112404334_112404335insGCA
NC_000010.11:g.110644579AGC[3]
NG_021177.1:g.5183AGC[3]
NM_001134363.3:c.125AGC[3]MANE SELECT
NP_001127835.2:p.Gln43dup
LRG_382t1:c.128_130dup
LRG_382:g.5183AGC[3]
NC_000010.10:g.112404334_112404335insGCA
NC_000010.10:g.112404337AGC[3]
NC_000010.10:g.112404342_112404343insAGC
NM_001134363.1:c.128_130dup
NM_001134363.1:c.128_130dupAGC
NM_001134363.2:c.128_130dup
NM_001134363.2:c.128_130dupAGC
c.128_130dupAGC
p.Q43dup

Links:

dbSNP: rs397516593

NCBI 1000 Genomes Browser:

rs397516593

Molecular consequence:

NM_001134363.3:c.125AGC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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cytochrome oxidase subunit 1, partial (mitochondrion) [Triraphis sp. 27 DLJQ-202...
cytochrome oxidase subunit 1, partial (mitochondrion) [Triraphis sp. 27 DLJQ-2021a]
gi|2106369714|gb|UBY46542.1|

Protein
Vascularized Composite Allotransplantation
Vascularized Composite Allotransplantation
Transference of multiple tissues, such as muscle, bone, nerve, and skin, as a functional unit for reconstructive purposes. Blood supply to the transplanted tissues is maintain...<br/>Year introduced: 2014

MeSH
Transplantation, Haploidentical
Transplantation, Haploidentical
Transplantation between individuals who share a partial haplotype match.<br/>Year introduced: 2018

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000060598	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Mar 11, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001920564	Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV001965244	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV002511610	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Apr 9, 2022)	germline	clinical testing	Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	5	5	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000060598.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	not provided	not provided	clinical testing	PubMed (1)

Description

p.Gln43_Pro44insGln in exon 1 of RBM20: This variant is not expected to have cli nical significance because it has been identified in 2.0% (133/6770) of South As ian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs397516593).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		5	not provided	5	not provided

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001920564.1

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

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001965244.1

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

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002511610.1

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

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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