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NM_006790.3(MYOT):c.634-14_634-10del AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jun 28, 2022
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:
RCV000294314.6

Allele description [Variation Report for NM_006790.3(MYOT):c.634-14_634-10del]

NM_006790.3(MYOT):c.634-14_634-10del

Genes:
PKD2L2-DT:PKD2L2 divergent transcript [Gene - HGNC]
MYOT:myotilin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q31.2
Genomic location:
Preferred name:
NM_006790.3(MYOT):c.634-14_634-10del
HGVS:
  • NC_000005.10:g.137880802_137880806del
  • NG_008894.1:g.17947_17951del
  • NM_001135940.2:c.82-14_82-10del
  • NM_001300911.2:c.289-14_289-10del
  • NM_006790.3:c.634-14_634-10delMANE SELECT
  • LRG_201:g.17947_17951del
  • NC_000005.9:g.137216488_137216492del
  • NC_000005.9:g.137216491_137216495del
Links:
dbSNP: rs747808820
NCBI 1000 Genomes Browser:
rs747808820
Molecular consequence:
  • NM_001135940.2:c.82-14_82-10del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001300911.2:c.289-14_289-10del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006790.3:c.634-14_634-10del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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
SCV000343096Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Jun 19, 2016) 		germlineclinical testing

Citation Link,

SCV002546775GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jun 28, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000343096.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV002546775.2

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

Description

In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30564623)

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

Last Updated: Sep 29, 2024