NM_001130987.2(DYSF):c.3228+8_3228+33del AND Autosomal recessive limb-girdle muscular dystrophy type 2B

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 13, 2018
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:: RCV000672722.1

Allele description [Variation Report for NM_001130987.2(DYSF):c.3228+8_3228+33del]

NM_001130987.2(DYSF):c.3228+8_3228+33del

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p13.2

Genomic location:

Preferred name:

NM_001130987.2(DYSF):c.3228+8_3228+33del

HGVS:

NC_000002.12:g.71570749_71570774del
NG_008694.1:g.122127_122152del
NM_001130455.2:c.3177+8_3177+33del
NM_001130976.2:c.3132+8_3132+33del
NM_001130977.2:c.3132+8_3132+33del
NM_001130978.2:c.3174+8_3174+33del
NM_001130979.2:c.3267+8_3267+33del
NM_001130980.2:c.3225+8_3225+33del
NM_001130981.2:c.3225+8_3225+33del
NM_001130982.2:c.3270+8_3270+33del
NM_001130983.2:c.3177+8_3177+33del
NM_001130984.2:c.3135+8_3135+33del
NM_001130985.2:c.3228+8_3228+33del
NM_001130986.2:c.3135+8_3135+33del
NM_001130987.2:c.3228+8_3228+33delMANE SELECT
NM_003494.4:c.3174+8_3174+33del
LRG_845t1:c.3174+8_3174+33del
LRG_845t2:c.3228+8_3228+33del
LRG_845:g.122127_122152del
NC_000002.11:g.71797876_71797901del
NC_000002.11:g.71797879_71797904del
NM_003494.3:c.3174+8_3174+33del26

Links:

dbSNP: rs1553556251

NCBI 1000 Genomes Browser:

rs1553556251

Molecular consequence:

NM_001130455.2:c.3177+8_3177+33del - intron variant - [Sequence Ontology: SO:0001627]
NM_001130976.2:c.3132+8_3132+33del - intron variant - [Sequence Ontology: SO:0001627]
NM_001130977.2:c.3132+8_3132+33del - intron variant - [Sequence Ontology: SO:0001627]
NM_001130978.2:c.3174+8_3174+33del - intron variant - [Sequence Ontology: SO:0001627]
NM_001130979.2:c.3267+8_3267+33del - intron variant - [Sequence Ontology: SO:0001627]
NM_001130980.2:c.3225+8_3225+33del - intron variant - [Sequence Ontology: SO:0001627]
NM_001130981.2:c.3225+8_3225+33del - intron variant - [Sequence Ontology: SO:0001627]
NM_001130982.2:c.3270+8_3270+33del - intron variant - [Sequence Ontology: SO:0001627]
NM_001130983.2:c.3177+8_3177+33del - intron variant - [Sequence Ontology: SO:0001627]
NM_001130984.2:c.3135+8_3135+33del - intron variant - [Sequence Ontology: SO:0001627]
NM_001130985.2:c.3228+8_3228+33del - intron variant - [Sequence Ontology: SO:0001627]
NM_001130986.2:c.3135+8_3135+33del - intron variant - [Sequence Ontology: SO:0001627]
NM_001130987.2:c.3228+8_3228+33del - intron variant - [Sequence Ontology: SO:0001627]
NM_003494.4:c.3174+8_3174+33del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMDR2)
Synonyms:: Limb-girdle muscular dystrophy, type 2B; Muscular dystrophy, limb-girdle, type 3; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2
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
SCV000797856	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely benign (Feb 13, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000797856

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely benign
(Feb 13, 2018)

unknown

clinical testing

Citation Link

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, SCV000797856.1

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

Last Updated: Sep 29, 2024

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