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NM_004281.4(BAG3):c.634C>A (p.His212Asn) AND Dilated cardiomyopathy 1HH

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 4, 2018
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:
RCV000735844.1

Allele description [Variation Report for NM_004281.4(BAG3):c.634C>A (p.His212Asn)]

NM_004281.4(BAG3):c.634C>A (p.His212Asn)

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.634C>A (p.His212Asn)
HGVS:
  • NC_000010.11:g.119672381C>A
  • NG_016125.1:g.26012C>A
  • NM_004281.4:c.634C>AMANE SELECT
  • NP_004272.2:p.His212Asn
  • NP_004272.2:p.His212Asn
  • LRG_742t1:c.634C>A
  • LRG_742:g.26012C>A
  • LRG_742p1:p.His212Asn
  • NC_000010.10:g.121431893C>A
  • NM_004281.3:c.634C>A
Protein change:
H212N
Links:
dbSNP: rs752772180
NCBI 1000 Genomes Browser:
rs752772180
Molecular consequence:
  • NM_004281.4:c.634C>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Unknown function

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000781064Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 4, 2018) 		maternalresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasianmaternalyes1not providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations, SCV000781064.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedresearch PubMed (1)

Description

The variant p.H212N was characterized as probably pathogenic by multiple prediction tools (PP3 criteria in ACMG Guidelines). It is also absent from population databases (PM2 criteria in ACMG Guidelines). However, in summary, the p.H212N variant can be classified as variant with unknown clinical significance. The p.H212N variant discovered in female patient with early-onset dilatation cardiomyopathy (pediatric DCM) and heart failure. The patient underwent heart transplantation at the age of 19.

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

Last Updated: Feb 28, 2024