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NM_000256.3(MYBPC3):c.1037G>A (p.Arg346His) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 20, 2021
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:
RCV004018739.1

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1037G>A (p.Arg346His)]

NM_000256.3(MYBPC3):c.1037G>A (p.Arg346His)

Gene:
MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000256.3(MYBPC3):c.1037G>A (p.Arg346His)
Other names:
p.R346H:CGC>CAC
HGVS:
  • NC_000011.10:g.47346260C>T
  • NG_007667.1:g.11443G>A
  • NM_000256.3:c.1037G>AMANE SELECT
  • NP_000247.2:p.Arg346His
  • LRG_386t1:c.1037G>A
  • LRG_386:g.11443G>A
  • LRG_386p1:p.Arg346His
  • NC_000011.9:g.47367811C>T
  • c.1037G>A
  • p.R346H
Protein change:
R346H
Links:
dbSNP: rs397515883
NCBI 1000 Genomes Browser:
rs397515883
Molecular consequence:
  • NM_000256.3:c.1037G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004938397Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 20, 2021) 		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, SCV004938397.1

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

Description

The c.1037G>A (p.R346H) alteration is located in exon 12 (coding exon 12) of the MYBPC3 gene. This alteration results from a G to A substitution at nucleotide position 1037, causing the arginine (R) at amino acid position 346 to be replaced by a histidine (H). 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: Sep 29, 2024