NM_001130987.2(DYSF):c.219_220delinsCC (p.Glu74Gln) AND Qualitative or quantitative defects of dysferlin

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 3, 2022
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:: RCV002745846.2

Allele description [Variation Report for NM_001130987.2(DYSF):c.219_220delinsCC (p.Glu74Gln)]

NM_001130987.2(DYSF):c.219_220delinsCC (p.Glu74Gln)

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

2p13.2

Genomic location:

Preferred name:

NM_001130987.2(DYSF):c.219_220delinsCC (p.Glu74Gln)

HGVS:

NC_000002.12:g.71481950_71481951delinsCC
NG_008694.1:g.33328_33329delinsCC
NM_001130455.2:c.219_220delinsCC
NM_001130976.2:c.216_217delinsCC
NM_001130977.2:c.216_217delinsCC
NM_001130978.2:c.216_217delinsCC
NM_001130979.2:c.216_217delinsCC
NM_001130980.2:c.216_217delinsCC
NM_001130981.2:c.216_217delinsCC
NM_001130982.2:c.219_220delinsCC
NM_001130983.2:c.219_220delinsCC
NM_001130984.2:c.219_220delinsCC
NM_001130985.2:c.219_220delinsCC
NM_001130986.2:c.219_220delinsCC
NM_001130987.2:c.219_220delinsCCMANE SELECT
NM_003494.4:c.216_217delinsCC
NP_001123927.1:p.Glu74Gln
NP_001124448.1:p.Glu73Gln
NP_001124449.1:p.Glu73Gln
NP_001124450.1:p.Glu73Gln
NP_001124451.1:p.Glu73Gln
NP_001124452.1:p.Glu73Gln
NP_001124453.1:p.Glu73Gln
NP_001124454.1:p.Glu74Gln
NP_001124455.1:p.Glu74Gln
NP_001124456.1:p.Glu74Gln
NP_001124457.1:p.Glu74Gln
NP_001124458.1:p.Glu74Gln
NP_001124459.1:p.Glu74Gln
NP_003485.1:p.Glu73Gln
LRG_845t1:c.216_217delinsCC
LRG_845t2:c.219_220delinsCC
LRG_845:g.33328_33329delinsCC
LRG_845p1:p.Glu73Gln
LRG_845p2:p.Glu74Gln
NC_000002.11:g.71709080_71709081delinsCC

Protein change:

E73Q

Molecular consequence:

NM_001130455.2:c.219_220delinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001130976.2:c.216_217delinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001130977.2:c.216_217delinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001130978.2:c.216_217delinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001130979.2:c.216_217delinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001130980.2:c.216_217delinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001130981.2:c.216_217delinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001130982.2:c.219_220delinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001130983.2:c.219_220delinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001130984.2:c.219_220delinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001130985.2:c.219_220delinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001130986.2:c.219_220delinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_001130987.2:c.219_220delinsCC - missense variant - [Sequence Ontology: SO:0001583]
NM_003494.4:c.216_217delinsCC - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Qualitative or quantitative defects of dysferlin
Synonyms:: Dysferlinopathy
Identifiers:: MONDO: MONDO:0016145; MedGen: C2931687

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003013479	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 3, 2022)	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

SCV003013479

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 3, 2022)

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV003013479.2

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with DYSF-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 73 of the DYSF protein (p.Glu73Gln).

#	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: Feb 20, 2024

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