NM_001130987.2(DYSF):c.3943A>G (p.Arg1315Gly) AND Qualitative or quantitative defects of dysferlin

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 24, 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:: RCV001056589.4

Allele description [Variation Report for NM_001130987.2(DYSF):c.3943A>G (p.Arg1315Gly)]

NM_001130987.2(DYSF):c.3943A>G (p.Arg1315Gly)

Genes:

LOC122787137:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:71829831-71831030 [Gene]
DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.2

Genomic location:

Preferred name:

NM_001130987.2(DYSF):c.3943A>G (p.Arg1315Gly)

HGVS:

NC_000002.12:g.71602791A>G
NG_008694.1:g.154169A>G
NM_001130455.2:c.3892A>G
NM_001130976.2:c.3847A>G
NM_001130977.2:c.3847A>G
NM_001130978.2:c.3889A>G
NM_001130979.2:c.3982A>G
NM_001130980.2:c.3940A>G
NM_001130981.2:c.3940A>G
NM_001130982.2:c.3985A>G
NM_001130983.2:c.3892A>G
NM_001130984.2:c.3850A>G
NM_001130985.2:c.3943A>G
NM_001130986.2:c.3850A>G
NM_001130987.2:c.3943A>GMANE SELECT
NM_003494.4:c.3889A>G
NP_001123927.1:p.Arg1298Gly
NP_001124448.1:p.Arg1283Gly
NP_001124449.1:p.Arg1283Gly
NP_001124450.1:p.Arg1297Gly
NP_001124451.1:p.Arg1328Gly
NP_001124452.1:p.Arg1314Gly
NP_001124453.1:p.Arg1314Gly
NP_001124454.1:p.Arg1329Gly
NP_001124455.1:p.Arg1298Gly
NP_001124456.1:p.Arg1284Gly
NP_001124457.1:p.Arg1315Gly
NP_001124458.1:p.Arg1284Gly
NP_001124459.1:p.Arg1315Gly
NP_003485.1:p.Arg1297Gly
LRG_845t1:c.3889A>G
LRG_845t2:c.3943A>G
LRG_845:g.154169A>G
LRG_845p1:p.Arg1297Gly
LRG_845p2:p.Arg1315Gly
NC_000002.11:g.71829921A>G
NC_000002.11:g.71829921A>G
NM_003494.3:c.3889A>G

Protein change:

R1283G

Links:

dbSNP: rs535831045

NCBI 1000 Genomes Browser:

rs535831045

Molecular consequence:

NM_001130455.2:c.3892A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130976.2:c.3847A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130977.2:c.3847A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130978.2:c.3889A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130979.2:c.3982A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130980.2:c.3940A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130981.2:c.3940A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130982.2:c.3985A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130983.2:c.3892A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130984.2:c.3850A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130985.2:c.3943A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130986.2:c.3850A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130987.2:c.3943A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003494.4:c.3889A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Begonia
Begonia
Genomic divergence and mutation load in the Begonia masoniana complex from limestone karsts Raw sequence reads

BioProject

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001221039	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Dec 24, 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

SCV001221039

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Dec 24, 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

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001221039.3

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

#	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

ClinVar

Relating variation to medicine