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NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) AND Myofibrillar myopathy 6

Germline classification:
Benign (3 submissions)
Last evaluated:
May 28, 2019
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:
RCV000490529.6

Allele description [Variation Report for NM_004281.3(BAG3):c.772C>T (p.Arg258Trp)]

NM_004281.3(BAG3):c.772C>T (p.Arg258Trp)

Gene:
BAG3:BAG cochaperone 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q26.11
Genomic location:
Preferred name:
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp)
Other names:
p.R258W:CGG>TGG
HGVS:
  • NC_000010.11:g.119672519C>T
  • NG_016125.1:g.26150C>T
  • NM_004281.4:c.772C>TMANE SELECT
  • NP_004272.2:p.Arg258Trp
  • NP_004272.2:p.Arg258Trp
  • LRG_742t1:c.772C>T
  • LRG_742:g.26150C>T
  • LRG_742p1:p.Arg258Trp
  • NC_000010.10:g.121432031C>T
  • NM_004281.3:c.772C>T
  • O95817:p.Arg258Trp
  • c.772C>T
Protein change:
R258W; ARG258TRP
Links:
UniProtKB: O95817#VAR_066782; OMIM: 603883.0009; dbSNP: rs117671123
NCBI 1000 Genomes Browser:
rs117671123
Molecular consequence:
  • NM_004281.4:c.772C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Myofibrillar myopathy 6
Synonyms:
Myofibrillar myopathy, BAG3-related
Identifiers:
MONDO: MONDO:0013061; MedGen: C2751831; Orphanet: 199340; OMIM: 612954

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000267220Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Mar 18, 2016)
germlinereference population

PubMed (2)
[See all records that cite these PMIDs]

SCV000360582Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Benign
(Mar 6, 2018)
germlineclinical testing

Citation Link,

SCV001138176Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)
Benign
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
East Asiangermlineunknown3not providednot providednot providednot providedreference population

Citations

PubMed

BAG3-related myofibrillar myopathy in a Chinese family.

Lee HC, Cherk SW, Chan SK, Wong S, Tong TW, Ho WS, Chan AY, Lee KC, Mak CM.

Clin Genet. 2012 Apr;81(4):394-8. doi: 10.1111/j.1399-0004.2011.01659.x. Epub 2011 Apr 4.

PubMed [citation]
PMID:
21361913

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 Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267220.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian3not providednot providedreference population PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

From Illumina Laboratory Services, Illumina, SCV000360582.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Mendelics, SCV001138176.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024