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NM_004281.4(BAG3):c.891C>T (p.Thr297=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 18, 2017
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:
RCV000421808.2

Allele description [Variation Report for NM_004281.4(BAG3):c.891C>T (p.Thr297=)]

NM_004281.4(BAG3):c.891C>T (p.Thr297=)

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.891C>T (p.Thr297=)
HGVS:
  • NC_000010.11:g.119672638C>T
  • NG_016125.1:g.26269C>T
  • NM_004281.4:c.891C>TMANE SELECT
  • NP_004272.2:p.Thr297=
  • NP_004272.2:p.Thr297=
  • LRG_742t1:c.891C>T
  • LRG_742:g.26269C>T
  • LRG_742p1:p.Thr297=
  • NC_000010.10:g.121432150C>T
  • NM_004281.3:c.891C>T
Links:
dbSNP: rs372571986
NCBI 1000 Genomes Browser:
rs372571986
Molecular consequence:
  • NM_004281.4:c.891C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000531145GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Dec 18, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000531145.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 29, 2024