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NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr) AND Autosomal recessive limb-girdle muscular dystrophy type 2B

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 11, 2019
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:
RCV001276722.2

Allele description [Variation Report for NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr)]

NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr)

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr)
HGVS:
  • NC_000002.12:g.71515666A>C
  • NG_008694.1:g.67044A>C
  • NM_001130455.2:c.710A>C
  • NM_001130976.2:c.707A>C
  • NM_001130977.2:c.707A>C
  • NM_001130978.2:c.707A>C
  • NM_001130979.2:c.800A>C
  • NM_001130980.2:c.800A>C
  • NM_001130981.2:c.800A>C
  • NM_001130982.2:c.803A>C
  • NM_001130983.2:c.710A>C
  • NM_001130984.2:c.710A>C
  • NM_001130985.2:c.803A>C
  • NM_001130986.2:c.710A>C
  • NM_001130987.2:c.803A>CMANE SELECT
  • NM_003494.4:c.707A>C
  • NP_001123927.1:p.Asn237Thr
  • NP_001124448.1:p.Asn236Thr
  • NP_001124449.1:p.Asn236Thr
  • NP_001124450.1:p.Asn236Thr
  • NP_001124451.1:p.Asn267Thr
  • NP_001124452.1:p.Asn267Thr
  • NP_001124453.1:p.Asn267Thr
  • NP_001124454.1:p.Asn268Thr
  • NP_001124455.1:p.Asn237Thr
  • NP_001124456.1:p.Asn237Thr
  • NP_001124457.1:p.Asn268Thr
  • NP_001124458.1:p.Asn237Thr
  • NP_001124459.1:p.Asn268Thr
  • NP_003485.1:p.Asn236Thr
  • LRG_845t1:c.707A>C
  • LRG_845t2:c.803A>C
  • LRG_845:g.67044A>C
  • LRG_845p1:p.Asn236Thr
  • LRG_845p2:p.Asn268Thr
  • NC_000002.11:g.71742796A>C
  • NM_003494.3:c.707A>C
Protein change:
N236T
Links:
dbSNP: rs150917600
NCBI 1000 Genomes Browser:
rs150917600
Molecular consequence:
  • NM_001130455.2:c.710A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130976.2:c.707A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130977.2:c.707A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130978.2:c.707A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130979.2:c.800A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130980.2:c.800A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130981.2:c.800A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130982.2:c.803A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130983.2:c.710A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130984.2:c.710A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130985.2:c.803A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130986.2:c.710A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130987.2:c.803A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003494.4:c.707A>C - 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
SCV001463249Natera, Inc.
no assertion criteria provided
Uncertain significance
(Nov 11, 2019) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001463249.1

#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: Oct 20, 2024