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:: RCV000377821.27

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:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000333723	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Sep 14, 2015)	germline	clinical testing	Citation Link,
SCV001246778	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Oct 1, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000333723

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Sep 14, 2015)

germline

clinical testing

Citation Link,

SCV001246778

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Oct 1, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000333723.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV001246778.26

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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