NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Oct 15, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:

Allele description [Variation Report for NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)]

NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)

DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)
  • NC_000002.12:g.71682536C>T
  • NG_008694.1:g.233914C>T
  • NM_001130455.2:c.6066C>T
  • NM_001130976.2:c.6021C>T
  • NM_001130977.2:c.6084C>T
  • NM_001130978.2:c.6126C>T
  • NM_001130979.2:c.6156C>T
  • NM_001130980.2:c.6114C>T
  • NM_001130981.2:c.6177C>T
  • NM_001130982.2:c.6159C>T
  • NM_001130983.2:c.6129C>T
  • NM_001130984.2:c.6087C>T
  • NM_001130985.2:c.6117C>T
  • NM_001130986.2:c.6024C>T
  • NM_001130987.2:c.6180C>TMANE SELECT
  • NM_003494.4:c.6063C>T
  • NP_001123927.1:p.Pro2022=
  • NP_001124448.1:p.Pro2007=
  • NP_001124449.1:p.Pro2028=
  • NP_001124450.1:p.Pro2042=
  • NP_001124451.1:p.Pro2052=
  • NP_001124452.1:p.Pro2038=
  • NP_001124453.1:p.Pro2059=
  • NP_001124454.1:p.Pro2053=
  • NP_001124455.1:p.Pro2043=
  • NP_001124456.1:p.Pro2029=
  • NP_001124457.1:p.Pro2039=
  • NP_001124458.1:p.Pro2008=
  • NP_001124459.1:p.Pro2060=
  • NP_003485.1:p.Pro2021=
  • LRG_845t1:c.6063C>T
  • LRG_845t2:c.6180C>T
  • LRG_845:g.233914C>T
  • LRG_845p1:p.Pro2021=
  • LRG_845p2:p.Pro2060=
  • NC_000002.11:g.71909666C>T
  • NM_003494.3:c.6063C>T
dbSNP: rs147263499
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001130455.2:c.6066C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130976.2:c.6021C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130977.2:c.6084C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130978.2:c.6126C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130979.2:c.6156C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130980.2:c.6114C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130981.2:c.6177C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130982.2:c.6159C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130983.2:c.6129C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130984.2:c.6087C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130985.2:c.6117C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130986.2:c.6024C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130987.2:c.6180C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003494.4:c.6063C>T - synonymous variant - [Sequence Ontology: SO:0001819]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000526850GeneDxcriteria provided, single submitter
Likely benign
(Oct 15, 2021)
germlineclinical testing

Citation Link,

SCV001143826Athena Diagnostics Inccriteria provided, single submitter
(Apr 27, 2019)
germlineclinical testing

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

Summary from all submissions

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



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]

Details of each submission

From GeneDx, SCV000526850.6

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

From Athena Diagnostics Inc, SCV001143826.1

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

Last Updated: Nov 27, 2021

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