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

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 28, 2021
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:
RCV002500743.1

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]

Condition(s)

Name:
3-methylglutaconic aciduria, type VIIB (MGCA7B)
Synonyms:
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia; 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
Identifiers:
MONDO: MONDO:0014561; MedGen: C5676893; Orphanet: 445038; OMIM: 616271
Name:
Neutropenia, severe congenital, 9, autosomal dominant
Identifiers:
MONDO: MONDO:0030726; MedGen: C5676954; OMIM: 619813
Name:
3-methylglutaconic aciduria, type VIIA
Synonyms:
3-METHYLGLUTACONIC ACIDURIA WITH NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, AUTOSOMAL DOMINANT
Identifiers:
MONDO: MONDO:0859237; MedGen: C5676967; OMIM: 619835

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002810132Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Jul 28, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

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 Fulgent Genetics, Fulgent Genetics, SCV002810132.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024