NM_001130987.2(DYSF):c.951+3_951+4del AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 1, 2021
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:: RCV001726413.20

Allele description [Variation Report for NM_001130987.2(DYSF):c.951+3_951+4del]

NM_001130987.2(DYSF):c.951+3_951+4del

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p13.2

Genomic location:

Preferred name:

NM_001130987.2(DYSF):c.951+3_951+4del

HGVS:

NC_000002.12:g.71516245_71516246del
NG_008694.1:g.67623_67624del
NM_001130455.2:c.858+3_858+4del
NM_001130976.2:c.855+3_855+4del
NM_001130977.2:c.855+3_855+4del
NM_001130978.2:c.855+3_855+4del
NM_001130979.2:c.948+3_948+4del
NM_001130980.2:c.948+3_948+4del
NM_001130981.2:c.948+3_948+4del
NM_001130982.2:c.951+3_951+4del
NM_001130983.2:c.858+3_858+4del
NM_001130984.2:c.858+3_858+4del
NM_001130985.2:c.951+3_951+4del
NM_001130986.2:c.858+3_858+4del
NM_001130987.2:c.951+3_951+4delMANE SELECT
NM_003494.4:c.855+3_855+4del
LRG_845t1:c.855+3_855+4del
LRG_845t2:c.951+3_951+4del
LRG_845:g.67623_67624del
NC_000002.11:g.71743374_71743375delTA
NC_000002.11:g.71743375_71743376del

Links:

dbSNP: rs1573663867

NCBI 1000 Genomes Browser:

rs1573663867

Molecular consequence:

NM_001130455.2:c.858+3_858+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001130976.2:c.855+3_855+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001130977.2:c.855+3_855+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001130978.2:c.855+3_855+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001130979.2:c.948+3_948+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001130980.2:c.948+3_948+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001130981.2:c.948+3_948+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001130982.2:c.951+3_951+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001130983.2:c.858+3_858+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001130984.2:c.858+3_858+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001130985.2:c.951+3_951+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001130986.2:c.858+3_858+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001130987.2:c.951+3_951+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_003494.4:c.855+3_855+4del - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV001962262	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely pathogenic (Aug 1, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001962262

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Likely pathogenic
(Aug 1, 2021)

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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001962262.20

#	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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