NM_004281.4(BAG3):c.541_542delinsAA (p.Ser181Asn) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 28, 2022
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:: RCV002797304.3

Allele description [Variation Report for NM_004281.4(BAG3):c.541_542delinsAA (p.Ser181Asn)]

NM_004281.4(BAG3):c.541_542delinsAA (p.Ser181Asn)

Gene:

BAG3:BAG cochaperone 3 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

10q26.11

Genomic location:

Preferred name:

NM_004281.4(BAG3):c.541_542delinsAA (p.Ser181Asn)

HGVS:

NC_000010.11:g.119672288_119672289delinsAA
NG_016125.1:g.25919_25920delinsAA
NM_004281.4:c.541_542delinsAAMANE SELECT
NP_004272.2:p.Ser181Asn
NP_004272.2:p.Ser181Asn
LRG_742t1:c.541_542delTCinsAA
LRG_742:g.25919_25920delinsAA
LRG_742p1:p.Ser181Asn
NC_000010.10:g.121431800_121431801delinsAA
NM_004281.3:c.541_542delTCinsAA

Protein change:

S181N

Molecular consequence:

NM_004281.4:c.541_542delinsAA - 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

Name:: Dilated cardiomyopathy 1HH (CMD1HH)
Identifiers:: MONDO: MONDO:0013479; MedGen: C3151293; Orphanet: 154; OMIM: 613881

Recent activity

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Otpt1_1511_AM21_044.ab1 Otpt01 Oxytropis campestris/Oxytropis splendens mixed ES...
Otpt1_1511_AM21_044.ab1 Otpt01 Oxytropis campestris/Oxytropis splendens mixed EST library cDNA clone Otpt1_1511 similar to Wound-response protein, mRNA sequence
gi|315912696|gnl|dbEST|69075842|gb| 096.1|

Nucleotide
Otpt1_1422_CH0101_072.ab1 Otpt01 Oxytropis campestris/Oxytropis splendens mixed ...
Otpt1_1422_CH0101_072.ab1 Otpt01 Oxytropis campestris/Oxytropis splendens mixed EST library cDNA clone Otpt1_1422 similar to Auxin-induced protein, mRNA sequence
gi|315913391|gnl|dbEST|69075861|gb| 115.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003200669	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (May 28, 2022)	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

SCV003200669

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(May 28, 2022)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003200669.2

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with BAG3-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 181 of the BAG3 protein (p.Ser181Asn).

#	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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