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NM_001130987.2(DYSF):c.342del (p.Ala116fs) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 1, 2018
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:
RCV000377821.26

Allele description [Variation Report for NM_001130987.2(DYSF):c.342del (p.Ala116fs)]

NM_001130987.2(DYSF):c.342del (p.Ala116fs)

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.342del (p.Ala116fs)
HGVS:
  • NC_000002.12:g.71503316del
  • NG_008694.1:g.54694del
  • NM_001130455.2:c.342del
  • NM_001130976.2:c.339del
  • NM_001130977.2:c.339del
  • NM_001130978.2:c.339del
  • NM_001130979.2:c.339del
  • NM_001130980.2:c.339del
  • NM_001130981.2:c.339del
  • NM_001130982.2:c.342del
  • NM_001130983.2:c.342del
  • NM_001130984.2:c.342del
  • NM_001130985.2:c.342del
  • NM_001130986.2:c.342del
  • NM_001130987.2:c.342delMANE SELECT
  • NM_003494.4:c.339del
  • NP_001123927.1:p.Ala116fs
  • NP_001124448.1:p.Ala115fs
  • NP_001124449.1:p.Ala115fs
  • NP_001124450.1:p.Ala115fs
  • NP_001124451.1:p.Ala115fs
  • NP_001124452.1:p.Ala115fs
  • NP_001124453.1:p.Ala115fs
  • NP_001124454.1:p.Ala116fs
  • NP_001124455.1:p.Ala116fs
  • NP_001124456.1:p.Ala116fs
  • NP_001124457.1:p.Ala116fs
  • NP_001124458.1:p.Ala116fs
  • NP_001124459.1:p.Ala116fs
  • NP_003485.1:p.Ala115fs
  • LRG_845t1:c.339del
  • LRG_845t2:c.342del
  • LRG_845:g.54694del
  • LRG_845p1:p.Ala115fs
  • LRG_845p2:p.Ala116fs
  • NC_000002.11:g.71730446del
  • NM_003494.3:c.339del
  • NM_003494.3:c.339delA
Protein change:
A115fs
Links:
dbSNP: rs886042379
NCBI 1000 Genomes Browser:
rs886042379
Molecular consequence:
  • NM_001130455.2:c.342del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130976.2:c.339del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130977.2:c.339del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130978.2:c.339del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130979.2:c.339del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130980.2:c.339del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130981.2:c.339del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130982.2:c.342del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130983.2:c.342del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130984.2:c.342del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130985.2:c.342del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130986.2:c.342del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130987.2:c.342del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003494.4:c.339del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000333723Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Pathogenic
(Sep 14, 2015)
germlineclinical testing

Citation Link,

SCV001246778CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Pathogenic
(Oct 1, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000333723.3

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

From CeGaT Center for Human Genetics Tuebingen, SCV001246778.25

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

Last Updated: Oct 8, 2024