NM_001130987.2(DYSF):c.4528-2A>G AND Autosomal recessive limb-girdle muscular dystrophy type 2B

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 13, 2017
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000665741.2

Allele description [Variation Report for NM_001130987.2(DYSF):c.4528-2A>G]

NM_001130987.2(DYSF):c.4528-2A>G

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.2

Genomic location:

Preferred name:

NM_001130987.2(DYSF):c.4528-2A>G

HGVS:

NC_000002.12:g.71643963A>G
NG_008694.1:g.195341A>G
NM_001130455.2:c.4414-2A>G
NM_001130976.2:c.4369-2A>G
NM_001130977.2:c.4432-2A>G
NM_001130978.2:c.4474-2A>G
NM_001130979.2:c.4504-2A>G
NM_001130980.2:c.4462-2A>G
NM_001130981.2:c.4525-2A>G
NM_001130982.2:c.4507-2A>G
NM_001130983.2:c.4477-2A>G
NM_001130984.2:c.4435-2A>G
NM_001130985.2:c.4465-2A>G
NM_001130986.2:c.4372-2A>G
NM_001130987.2:c.4528-2A>GMANE SELECT
NM_003494.4:c.4411-2A>G
LRG_845t1:c.4411-2A>G
LRG_845t2:c.4528-2A>G
LRG_845:g.195341A>G
NC_000002.11:g.71871093A>G
NM_003494.3:c.4411-2A>G

Links:

dbSNP: rs1213965862

Molecular consequence:

NM_001130455.2:c.4414-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001130976.2:c.4369-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001130977.2:c.4432-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001130978.2:c.4474-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001130979.2:c.4504-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001130980.2:c.4462-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001130981.2:c.4525-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001130982.2:c.4507-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001130983.2:c.4477-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001130984.2:c.4435-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001130985.2:c.4465-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001130986.2:c.4372-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001130987.2:c.4528-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_003494.4:c.4411-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMDR2)
Synonyms:: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 3; Limb-girdle muscular dystrophy, type 2B; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009676; MedGen: C1850889; Orphanet: 268; OMIM: 253601

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000789909	Counsyl	no assertion criteria provided	Likely pathogenic (Mar 13, 2017)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000789909

Counsyl

no assertion criteria provided

Likely pathogenic
(Mar 13, 2017)

unknown

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000789909.2

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

Description

This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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

Last Updated: Apr 12, 2026

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