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NM_001015048.3(BAG5):c.1223C>T (p.Ala408Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 7, 2023
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:
RCV003276522.2

Allele description [Variation Report for NM_001015048.3(BAG5):c.1223C>T (p.Ala408Val)]

NM_001015048.3(BAG5):c.1223C>T (p.Ala408Val)

Gene:
BAG5:BAG cochaperone 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.33
Genomic location:
Preferred name:
NM_001015048.3(BAG5):c.1223C>T (p.Ala408Val)
HGVS:
  • NC_000014.9:g.103559942G>A
  • NG_041786.1:g.1986G>A
  • NM_001015048.3:c.1223C>TMANE SELECT
  • NM_001015049.5:c.1223C>T
  • NM_004873.4:c.1223C>T
  • NP_001015048.1:p.Ala408Val
  • NP_001015049.2:p.Ala408Val
  • NP_004864.1:p.Ala408Val
  • NC_000014.8:g.104026279G>A
  • NM_001015049.2:c.1346C>T
Protein change:
A408V
Molecular consequence:
  • NM_001015048.3:c.1223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001015049.5:c.1223C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004873.4:c.1223C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003973055Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 7, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003973055.2

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

Description

The c.1346C>T (p.A449V) alteration is located in exon 2 (coding exon 2) of the BAG5 gene. This alteration results from a C to T substitution at nucleotide position 1346, causing the alanine (A) at amino acid position 449 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024