NM_004281.4(BAG3):c.230C>T (p.Pro77Leu) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Feb 24, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000150175.3

Allele description [Variation Report for NM_004281.4(BAG3):c.230C>T (p.Pro77Leu)]

NM_004281.4(BAG3):c.230C>T (p.Pro77Leu)

Gene:
BAG3:BAG cochaperone 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q26.11
Genomic location:
Preferred name:
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu)
HGVS:
  • NC_000010.11:g.119669900C>T
  • NG_016125.1:g.23531C>T
  • NM_004281.4:c.230C>TMANE SELECT
  • NP_004272.2:p.Pro77Leu
  • NP_004272.2:p.Pro77Leu
  • LRG_742t1:c.230C>T
  • LRG_742:g.23531C>T
  • LRG_742p1:p.Pro77Leu
  • NC_000010.10:g.121429412C>T
  • NM_004281.3:c.230C>T
  • O95817:p.Pro77Leu
Protein change:
P77L
Links:
UniProtKB: O95817#VAR_066777; dbSNP: rs141355480
NCBI 1000 Genomes Browser:
rs141355480
Molecular consequence:
  • NM_004281.4:c.230C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000197085Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Jun 5, 2014)
germlineclinical testing

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

SCV000612482Athena Diagnostics Inccriteria provided, single submitter
Benign
(Feb 24, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

Progressive multifocal leukoencephalopathy in an immunocompetent patient.

van der Kolk NM, Arts P, van Uden IW, Hoischen A, van de Veerdonk FL, Netea MG, de Jong BA.

Ann Clin Transl Neurol. 2016 Mar;3(3):226-32. doi: 10.1002/acn3.279.

PubMed [citation]
PMID:
27042682
PMCID:
PMC4774259
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000197085.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Pro77Leu in exon 2 of BAG3: This variant is not expected to have clinical signif icance due to a lack of conservation across species, including mammals. Of note, >45 mammals and other species have a leucine (Leu) at this position despite hig h nearby amino acid conservation. In addition, computational prediction tools do not suggest a high likelihood of impact to the protein. It has also been identi fied in 5/8600 European American chromosomes by the NHLBI Exome Sequencing Proje ct (http://evs.gs.washington.edu/EVS/; dbSNP rs141355480).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

From Athena Diagnostics Inc, SCV000612482.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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