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NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jul 1, 2019
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000481797.22

Allele description

NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs)

Gene:
MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs)
HGVS:
  • NC_000011.10:g.47333623_47333624insTT
  • NG_007667.1:g.24080_24081insAA
  • NM_000256.3:c.3124_3125insAAMANE SELECT
  • NP_000247.2:p.Thr1042fs
  • LRG_386t1:c.3124_3125insAA
  • LRG_386:g.24080_24081insAA
  • LRG_386p1:p.Thr1042fs
  • NC_000011.9:g.47355173_47355174insTT
  • NC_000011.9:g.47355174_47355175insTT
  • p.Thr1042LysfsX5
Protein change:
T1042fs
Links:
dbSNP: rs1064793202
NCBI 1000 Genomes Browser:
rs1064793202
Molecular consequence:
  • NM_000256.3:c.3124_3125insAA - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000565279GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(May 3, 2019) 		germlineclinical testing

Citation Link,

SCV001249479CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Jul 1, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000565279.4

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Reported in ClinVar as a pathogenic variant (ClinVar Variant ID 418356; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 15519027, 9562578, 26914223)

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

From CeGaT Center for Human Genetics Tuebingen, SCV001249479.24

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Sep 29, 2024