NM_001130987.2(DYSF):c.110_111del (p.Lys37fs) AND DYSF-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 26, 2023
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:: RCV003415847.4

Allele description [Variation Report for NM_001130987.2(DYSF):c.110_111del (p.Lys37fs)]

NM_001130987.2(DYSF):c.110_111del (p.Lys37fs)

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p13.2

Genomic location:

Preferred name:

NM_001130987.2(DYSF):c.110_111del (p.Lys37fs)

HGVS:

NC_000002.12:g.71480901_71480902del
NG_008694.1:g.32279_32280del
NM_001130455.2:c.110_111del
NM_001130976.2:c.107_108del
NM_001130977.2:c.107_108del
NM_001130978.2:c.107_108del
NM_001130979.2:c.107_108del
NM_001130980.2:c.107_108del
NM_001130981.2:c.107_108del
NM_001130982.2:c.110_111del
NM_001130983.2:c.110_111del
NM_001130984.2:c.110_111del
NM_001130985.2:c.110_111del
NM_001130986.2:c.110_111del
NM_001130987.2:c.110_111delMANE SELECT
NM_003494.4:c.107_108del
NP_001123927.1:p.Lys37fs
NP_001124448.1:p.Lys36fs
NP_001124449.1:p.Lys36fs
NP_001124450.1:p.Lys36fs
NP_001124451.1:p.Lys36fs
NP_001124452.1:p.Lys36fs
NP_001124453.1:p.Lys36fs
NP_001124454.1:p.Lys37fs
NP_001124455.1:p.Lys37fs
NP_001124456.1:p.Lys37fs
NP_001124457.1:p.Lys37fs
NP_001124458.1:p.Lys37fs
NP_001124459.1:p.Lys37fs
NP_003485.1:p.Lys36fs
LRG_845t1:c.107_108del
LRG_845t2:c.110_111del
LRG_845:g.32279_32280del
LRG_845p1:p.Lys36fs
LRG_845p2:p.Lys37fs
NC_000002.11:g.71708030_71708031del
NC_000002.11:g.71708031_71708032del
NM_003494.3:c.107_108del
NM_003494.3:c.107_108delAA
NM_003494.4:c.107_108delAA

Protein change:

K36fs

Links:

dbSNP: rs398123764

NCBI 1000 Genomes Browser:

rs398123764

Molecular consequence:

NM_001130455.2:c.110_111del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130976.2:c.107_108del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130977.2:c.107_108del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130978.2:c.107_108del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130979.2:c.107_108del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130980.2:c.107_108del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130981.2:c.107_108del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130982.2:c.110_111del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130983.2:c.110_111del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130984.2:c.110_111del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130985.2:c.110_111del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130986.2:c.110_111del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130987.2:c.110_111del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003494.4:c.107_108del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: DYSF-related disorder
Synonyms:: DYSF-related condition; DYSF-Related Disorders; DYSF- Related Disorder
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004109733	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 26, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004109733

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 26, 2023)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004109733.1

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

Description

The DYSF c.107_108delAA variant is predicted to result in a frameshift and premature protein termination (p.Lys36Serfs*12). This variant has been reported in individuals with DYSF-related disorders (Krahn et al. 2009. PubMed ID: 18853459; Klinge et al. 2009. PubMed ID: 19528035). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in DYSF are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: Sep 29, 2024

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