NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) AND Autosomal recessive limb-girdle muscular dystrophy type 2B

Germline classification:: Likely pathogenic (3 submissions)
Last evaluated:: Nov 2, 2017
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:: RCV000177998.15

Allele description [Variation Report for NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)]

NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.2

Genomic location:

Preferred name:

NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)

HGVS:

NC_000002.12:g.71612726G>A
NG_008694.1:g.164104G>A
NM_001130455.2:c.4256G>A
NM_001130976.2:c.4211G>A
NM_001130977.2:c.4211G>A
NM_001130978.2:c.4253G>A
NM_001130979.2:c.4346G>A
NM_001130980.2:c.4304G>A
NM_001130981.2:c.4304G>A
NM_001130982.2:c.4349G>A
NM_001130983.2:c.4256G>A
NM_001130984.2:c.4214G>A
NM_001130985.2:c.4307G>A
NM_001130986.2:c.4214G>A
NM_001130987.2:c.4307G>AMANE SELECT
NM_003494.4:c.4253G>A
NP_001123927.1:p.Gly1419Asp
NP_001124448.1:p.Gly1404Asp
NP_001124449.1:p.Gly1404Asp
NP_001124450.1:p.Gly1418Asp
NP_001124451.1:p.Gly1449Asp
NP_001124452.1:p.Gly1435Asp
NP_001124453.1:p.Gly1435Asp
NP_001124454.1:p.Gly1450Asp
NP_001124455.1:p.Gly1419Asp
NP_001124456.1:p.Gly1405Asp
NP_001124457.1:p.Gly1436Asp
NP_001124458.1:p.Gly1405Asp
NP_001124459.1:p.Gly1436Asp
NP_003485.1:p.Gly1418Asp
NP_003485.1:p.Gly1418Asp
LRG_845t1:c.4253G>A
LRG_845t2:c.4307G>A
LRG_845:g.164104G>A
LRG_845p1:p.Gly1418Asp
LRG_845p2:p.Gly1436Asp
NC_000002.11:g.71839856G>A
NM_003494.3:c.4253G>A

Protein change:

G1404D

Links:

dbSNP: rs398123787

NCBI 1000 Genomes Browser:

rs398123787

Molecular consequence:

NM_001130455.2:c.4256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001130976.2:c.4211G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001130977.2:c.4211G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001130978.2:c.4253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001130979.2:c.4346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001130980.2:c.4304G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001130981.2:c.4304G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001130982.2:c.4349G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001130983.2:c.4256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001130984.2:c.4214G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001130985.2:c.4307G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001130986.2:c.4214G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001130987.2:c.4307G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003494.4:c.4253G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000265778	Center for Genetic Medicine Research, Children's National Medical Center	criteria provided, single submitter (Punetha et al. (J Neuromuscul Dis. 2016))	Likely pathogenic (Dec 1, 2015)	unknown	research	PubMed (1) [See all records that cite this PMID]
SCV000795301	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Nov 2, 2017)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 24488599, 18832576, 27854218, 18294055 Citation Link,
SCV001452770	Natera, Inc.	no assertion criteria provided	Pathogenic (Sep 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000265778

Center for Genetic Medicine Research, Children's National Medical Center

criteria provided, single submitter

(Punetha et al. (J Neuromuscul Dis. 2016))

Likely pathogenic
(Dec 1, 2015)

unknown

research

PubMed (1)
[See all records that cite this PMID]

SCV000795301

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Nov 2, 2017)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link,

SCV001452770

Natera, Inc.

no assertion criteria provided

Pathogenic
(Sep 16, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Citations

PubMed

Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies.

Ankala A, Nallamilli BR, Rufibach LE, Hwang E, Hegde MR.

Muscle Nerve. 2014 Sep;50(3):333-9. doi: 10.1002/mus.24195. Epub 2014 Jun 16.

PubMed [citation]

PMID:: 24488599

Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset.

Kesari A, Fukuda M, Knoblach S, Bashir R, Nader GA, Rao D, Nagaraju K, Hoffman EP.

Am J Pathol. 2008 Nov;173(5):1476-87. doi: 10.2353/ajpath.2008.080098. Epub 2008 Oct 2.

PubMed [citation]

PMID:: 18832576
PMCID:: PMC2570137

See all PubMed Citations (4)

Details of each submission

From Center for Genetic Medicine Research, Children's National Medical Center, SCV000265778.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

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

From Counsyl, SCV000795301.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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

From Natera, Inc., SCV001452770.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 30, 2024

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