NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 28, 2019
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:: RCV001263964.4

Allele description [Variation Report for NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter)]

NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter)

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.2

Genomic location:

Preferred name:

NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter)

HGVS:

NC_000002.12:g.71570692G>A
NG_008694.1:g.122070G>A
NM_001130455.2:c.3128G>A
NM_001130976.2:c.3083G>A
NM_001130977.2:c.3083G>A
NM_001130978.2:c.3125G>A
NM_001130979.2:c.3218G>A
NM_001130980.2:c.3176G>A
NM_001130981.2:c.3176G>A
NM_001130982.2:c.3221G>A
NM_001130983.2:c.3128G>A
NM_001130984.2:c.3086G>A
NM_001130985.2:c.3179G>A
NM_001130986.2:c.3086G>A
NM_001130987.2:c.3179G>AMANE SELECT
NM_003494.4:c.3125G>A
NP_001123927.1:p.Trp1043Ter
NP_001124448.1:p.Trp1028Ter
NP_001124449.1:p.Trp1028Ter
NP_001124450.1:p.Trp1042Ter
NP_001124451.1:p.Trp1073Ter
NP_001124452.1:p.Trp1059Ter
NP_001124453.1:p.Trp1059Ter
NP_001124454.1:p.Trp1074Ter
NP_001124455.1:p.Trp1043Ter
NP_001124456.1:p.Trp1029Ter
NP_001124457.1:p.Trp1060Ter
NP_001124458.1:p.Trp1029Ter
NP_001124459.1:p.Trp1060Ter
NP_003485.1:p.Trp1042Ter
LRG_845t1:c.3125G>A
LRG_845t2:c.3179G>A
LRG_845:g.122070G>A
LRG_845p1:p.Trp1042Ter
LRG_845p2:p.Trp1060Ter
NC_000002.11:g.71797822G>A

Protein change:

W1028*

Links:

dbSNP: rs2092369130

NCBI 1000 Genomes Browser:

rs2092369130

Molecular consequence:

NM_001130455.2:c.3128G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001130976.2:c.3083G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001130977.2:c.3083G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001130978.2:c.3125G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001130979.2:c.3218G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001130980.2:c.3176G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001130981.2:c.3176G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001130982.2:c.3221G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001130983.2:c.3128G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001130984.2:c.3086G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001130985.2:c.3179G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001130986.2:c.3086G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001130987.2:c.3179G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_003494.4:c.3125G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Miyoshi muscular dystrophy 1 (MMD1)
Identifiers:: MONDO: MONDO:0024545; MedGen: C4551973; Orphanet: 45448; OMIM: 254130

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

Name:: Distal myopathy with anterior tibial onset
Identifiers:: MONDO: MONDO:0011721; MedGen: C1847532; Orphanet: 178400; OMIM: 606768

Recent activity

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Homo sapiens sperm associated antigen 7 (SPAG7), mRNA
Homo sapiens sperm associated antigen 7 (SPAG7), mRNA
gi|4757715|ref|NM_004890.1|

Nucleotide
Sphenomorphinae 12S ribosomal RNA gene, partial sequence; mitochondrial.
Sphenomorphinae 12S ribosomal RNA gene, partial sequence; mitochondrial.
PopSet: 115501517

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001442062	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))	Likely pathogenic (Dec 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001442062

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))

Likely pathogenic
(Dec 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV001442062.1

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

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

Last Updated: May 7, 2024

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