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NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu) AND Autosomal recessive limb-girdle muscular dystrophy type 2B

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Mar 31, 2017
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:
RCV000666376.2

Allele description [Variation Report for NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu)]

NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu)

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu)
HGVS:
  • NC_000002.12:g.71570626C>T
  • NG_008694.1:g.122004C>T
  • NM_001130455.2:c.3062C>T
  • NM_001130976.2:c.3017C>T
  • NM_001130977.2:c.3017C>T
  • NM_001130978.2:c.3059C>T
  • NM_001130979.2:c.3152C>T
  • NM_001130980.2:c.3110C>T
  • NM_001130981.2:c.3110C>T
  • NM_001130982.2:c.3155C>T
  • NM_001130983.2:c.3062C>T
  • NM_001130984.2:c.3020C>T
  • NM_001130985.2:c.3113C>T
  • NM_001130986.2:c.3020C>T
  • NM_001130987.2:c.3113C>TMANE SELECT
  • NM_003494.4:c.3059C>T
  • NP_001123927.1:p.Pro1021Leu
  • NP_001124448.1:p.Pro1006Leu
  • NP_001124449.1:p.Pro1006Leu
  • NP_001124450.1:p.Pro1020Leu
  • NP_001124451.1:p.Pro1051Leu
  • NP_001124452.1:p.Pro1037Leu
  • NP_001124453.1:p.Pro1037Leu
  • NP_001124454.1:p.Pro1052Leu
  • NP_001124455.1:p.Pro1021Leu
  • NP_001124456.1:p.Pro1007Leu
  • NP_001124457.1:p.Pro1038Leu
  • NP_001124458.1:p.Pro1007Leu
  • NP_001124459.1:p.Pro1038Leu
  • NP_003485.1:p.Pro1020Leu
  • LRG_845t1:c.3059C>T
  • LRG_845t2:c.3113C>T
  • LRG_845:g.122004C>T
  • LRG_845p1:p.Pro1020Leu
  • LRG_845p2:p.Pro1038Leu
  • NC_000002.11:g.71797756C>T
  • NM_003494.3:c.3059C>T
Protein change:
P1006L
Links:
dbSNP: rs764931697
NCBI 1000 Genomes Browser:
rs764931697
Molecular consequence:
  • NM_001130455.2:c.3062C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130976.2:c.3017C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130977.2:c.3017C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130978.2:c.3059C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130979.2:c.3152C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130980.2:c.3110C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130981.2:c.3110C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130982.2:c.3155C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130983.2:c.3062C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130984.2:c.3020C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130985.2:c.3113C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130986.2:c.3020C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130987.2:c.3113C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003494.4:c.3059C>T - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000790657Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Mar 31, 2017) 		unknownclinical testing

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

Citation Link,

SCV001462780Natera, Inc.
no assertion criteria provided
Uncertain significance
(Sep 16, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.

Jin SQ, Yu M, Zhang W, Lyu H, Yuan Y, Wang ZX.

Chin Med J (Engl). 2016 Oct 5;129(19):2287-93. doi: 10.4103/0366-6999.190671.

PubMed [citation]
PMID:
27647186
PMCID:
PMC5040013

Details of each submission

From Counsyl, SCV000790657.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Natera, Inc., SCV001462780.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024