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NM_000256.3(MYBPC3):c.3491-52G>C AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 5, 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:
RCV001551876.2

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3491-52G>C]

NM_000256.3(MYBPC3):c.3491-52G>C

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.3491-52G>C
HGVS:
  • NC_000011.10:g.47332754C>G
  • NG_007667.1:g.24949G>C
  • NM_000256.3:c.3491-52G>CMANE SELECT
  • LRG_386t1:c.3491-52G>C
  • LRG_386:g.24949G>C
  • NC_000011.9:g.47354305C>G
Links:
dbSNP: rs114368094
NCBI 1000 Genomes Browser:
rs114368094
Molecular consequence:
  • NM_000256.3:c.3491-52G>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001772472GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Jul 5, 2018) 		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, SCV001772472.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023