NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 21, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001283516.1

Allele description [Variation Report for NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)]

NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)
HGVS:
  • NC_000002.12:g.71481936G>C
  • NG_008694.1:g.33314G>C
  • NM_001130455.2:c.205G>C
  • NM_001130976.2:c.202G>C
  • NM_001130977.2:c.202G>C
  • NM_001130978.2:c.202G>C
  • NM_001130979.2:c.202G>C
  • NM_001130980.2:c.202G>C
  • NM_001130981.2:c.202G>C
  • NM_001130982.2:c.205G>C
  • NM_001130983.2:c.205G>C
  • NM_001130984.2:c.205G>C
  • NM_001130985.2:c.205G>C
  • NM_001130986.2:c.205G>C
  • NM_001130987.2:c.205G>CMANE SELECT
  • NM_003494.4:c.202G>C
  • NP_001123927.1:p.Val69Leu
  • NP_001124448.1:p.Val68Leu
  • NP_001124449.1:p.Val68Leu
  • NP_001124450.1:p.Val68Leu
  • NP_001124451.1:p.Val68Leu
  • NP_001124452.1:p.Val68Leu
  • NP_001124453.1:p.Val68Leu
  • NP_001124454.1:p.Val69Leu
  • NP_001124455.1:p.Val69Leu
  • NP_001124456.1:p.Val69Leu
  • NP_001124457.1:p.Val69Leu
  • NP_001124458.1:p.Val69Leu
  • NP_001124459.1:p.Val69Leu
  • NP_003485.1:p.Val68Leu
  • LRG_845t1:c.202G>C
  • LRG_845t2:c.205G>C
  • LRG_845:g.33314G>C
  • LRG_845p1:p.Val68Leu
  • LRG_845p2:p.Val69Leu
  • NC_000002.11:g.71709066G>C
  • NM_003494.3:c.202G>C
Protein change:
V68L
Links:
dbSNP: rs114986640
NCBI 1000 Genomes Browser:
rs114986640
Molecular consequence:
  • NM_001130455.2:c.205G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130976.2:c.202G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130977.2:c.202G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130978.2:c.202G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130979.2:c.202G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130980.2:c.202G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130981.2:c.202G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130982.2:c.205G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130983.2:c.205G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130984.2:c.205G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130985.2:c.205G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130986.2:c.205G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130987.2:c.205G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003494.4:c.202G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000613189Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Aug 21, 2020)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.

Nallamilli BRR, Chakravorty S, Kesari A, Tanner A, Ankala A, Schneider T, da Silva C, Beadling R, Alexander JJ, Askree SH, Whitt Z, Bean L, Collins C, Khadilkar S, Gaitonde P, Dastur R, Wicklund M, Mozaffar T, Harms M, Rufibach L, Mittal P, Hegde M.

Ann Clin Transl Neurol. 2018 Dec;5(12):1574-1587. doi: 10.1002/acn3.649.

PubMed [citation]
PMID:
30564623
PMCID:
PMC6292381

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics Inc, SCV000613189.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 23, 2021

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