NM_030813.6(CLPB):c.668G>A (p.Ser223Asn) AND not provided

Germline classification:: Benign/Likely benign (4 submissions)
Last evaluated:: Jun 1, 2024
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:: RCV000224307.27

Allele description [Variation Report for NM_030813.6(CLPB):c.668G>A (p.Ser223Asn)]

NM_030813.6(CLPB):c.668G>A (p.Ser223Asn)

Gene:

CLPB:ClpB family mitochondrial disaggregase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

Preferred name:

NM_030813.6(CLPB):c.668G>A (p.Ser223Asn)

HGVS:

NC_000011.10:g.72372993C>T
NG_042130.2:g.66692G>A
NM_001258392.3:c.646+7288G>AMANE SELECT
NM_001258393.3:c.559+7288G>A
NM_001258394.3:c.533G>A
NM_030813.6:c.668G>A
NP_001245323.1:p.Ser178Asn
NP_110440.1:p.Ser223Asn
LRG_1338t1:c.646+7288G>A
LRG_1338:g.66692G>A
NC_000011.9:g.72084037C>T
NM_030813.5:c.668G>A

Protein change:

S178N

Links:

dbSNP: rs143097446

NCBI 1000 Genomes Browser:

rs143097446

Molecular consequence:

NM_001258392.3:c.646+7288G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001258393.3:c.559+7288G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001258394.3:c.533G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_030813.6:c.668G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000280625	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely Benign (Apr 11, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000522283	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Sep 3, 2019)	germline	clinical testing	Citation Link,
SCV001747616	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jun 1, 2024)	germline	clinical testing	Citation Link,
SCV005212075	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	not provided	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	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	15	not provided	not provided	not provided	not provided	clinical testing, not provided

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000280625.1

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

Description

Converted during submission to Likely benign.

#	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		not provided	0.003896	not provided	not provided

From GeneDx, SCV000522283.4

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

Description

This variant is associated with the following publications: (PMID: 24439111)

#	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 CeGaT Center for Human Genetics Tuebingen, SCV001747616.20

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	15	not provided	not provided	clinical testing	not provided

Description

CLPB: BP4, BS2

#	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		15	not provided	not provided	not provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005212075.1

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

#	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

Last Updated: Oct 20, 2024

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