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

Clinical significance:Benign (Last evaluated: Apr 5, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000315999.5

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

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

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)
HGVS:
  • 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
Links:
dbSNP: rs147263499
NCBI 1000 Genomes Browser:
rs147263499
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]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000332116EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Apr 5, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000332116.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Nov 6, 2021

Support Center