NM_004281.4(BAG3):c.625C>T (p.Pro209Ser) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 3, 2023
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:: RCV001507780.7

Allele description [Variation Report for NM_004281.4(BAG3):c.625C>T (p.Pro209Ser)]

NM_004281.4(BAG3):c.625C>T (p.Pro209Ser)

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.625C>T (p.Pro209Ser)

HGVS:

NC_000010.11:g.119672372C>T
NG_016125.1:g.26003C>T
NM_004281.4:c.625C>TMANE SELECT
NP_004272.2:p.Pro209Ser
NP_004272.2:p.Pro209Ser
LRG_742t1:c.625C>T
LRG_742:g.26003C>T
LRG_742p1:p.Pro209Ser
NC_000010.10:g.121431884C>T
NM_004281.3:c.625C>T
p.Pro209Ser

Protein change:

P209S

Links:

dbSNP: rs1589630141

NCBI 1000 Genomes Browser:

rs1589630141

Molecular consequence:

NM_004281.4:c.625C>T - 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
SCV001713543	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 14, 2019)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 27164712, 28754666, 30559338, 25741868
SCV002023426	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 3, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001713543

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 14, 2019)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV002023426

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 3, 2023)

germline

clinical testing

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	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy.

Wang W, Wang C, Dawson DB, Thorland EC, Lundquist PA, Eckloff BW, Wu Y, Baheti S, Evans JM, Scherer SS, Dyck PJ, Klein CJ.

Neurology. 2016 May 10;86(19):1762-71. doi: 10.1212/WNL.0000000000002659. Epub 2016 Apr 13.

PubMed [citation]

PMID:: 27164712
PMCID:: PMC4862246

Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease.

Shy M, Rebelo AP, Feely SM, Abreu LA, Tao F, Swenson A, Bacon C, Zuchner S.

J Neurol Neurosurg Psychiatry. 2018 Mar;89(3):313-315. doi: 10.1136/jnnp-2017-315929. Epub 2017 Jul 28. No abstract available.

PubMed [citation]

PMID:: 28754666
PMCID:: PMC6152909

See all PubMed Citations (4)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV001713543.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (4)

Description

PS3, PS4_moderate, PM2, PM5, PP1

#	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		1	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV002023426.3

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

#	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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