NM_003494.4(DYSF):c.-12C>G AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 17, 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:: RCV000609185.10

Allele description [Variation Report for NM_003494.4(DYSF):c.-12C>G]

NM_003494.4(DYSF):c.-12C>G

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.2

Genomic location:

Preferred name:

NM_003494.4(DYSF):c.-12C>G

HGVS:

NC_000002.12:g.71453987C>G
NG_008694.1:g.5365C>G
NG_095499.1:g.669C>G
NM_001130976.2:c.-12C>G
NM_001130977.2:c.-12C>G
NM_001130978.2:c.-12C>G
NM_001130979.2:c.-12C>G
NM_001130980.2:c.-12C>G
NM_001130981.2:c.-12C>G
NM_003494.4:c.-12C>G
LRG_845t1:c.-12C>G
LRG_845:g.5365C>G
NC_000002.11:g.71681117C>G
NM_003494.3:c.-12C>G

Links:

dbSNP: rs1553495883

NCBI 1000 Genomes Browser:

rs1553495883

Molecular consequence:

NM_001130976.2:c.-12C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001130977.2:c.-12C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001130978.2:c.-12C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001130979.2:c.-12C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001130980.2:c.-12C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001130981.2:c.-12C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_003494.4:c.-12C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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BB795209 RIKEN full-length enriched, CRL-1751 WEHI 164 cDNA Mus musculus cDNA cl...
BB795209 RIKEN full-length enriched, CRL-1751 WEHI 164 cDNA Mus musculus cDNA clone G431003O09 3', mRNA sequence
gi|16964828|gnl|dbEST|10274116|dbj| 209.1|

Nucleotide
uy02f10.y1 McCarrey Eddy spermatocytes Mus musculus cDNA clone IMAGE:3656875 5',...
uy02f10.y1 McCarrey Eddy spermatocytes Mus musculus cDNA clone IMAGE:3656875 5', mRNA sequence
gi|10750563|gnl|dbEST|6342936|gb|BF 1.1|

Nucleotide
butyrophilin-like protein 10 isoform X1 [Mus musculus]
butyrophilin-like protein 10 isoform X1 [Mus musculus]
gi|568972293|ref|XP_006532596.1|

Protein
Caenorhabditis elegans F-box domain-containing protein (fbxb-47), partial mRNA
Caenorhabditis elegans F-box domain-containing protein (fbxb-47), partial mRNA
gi|1845971622|ref|NM_061647.4|

Nucleotide
family with sequence similarity 139, member A protein, partial [synthetic constr...
family with sequence similarity 139, member A protein, partial [synthetic construct]
gi|190689807|gb|ACE86678.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000722018	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely benign (Aug 17, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000722018

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely benign
(Aug 17, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000722018.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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