NM_001130987.2(DYSF):c.350C>T (p.Ser117Leu) AND Qualitative or quantitative defects of dysferlin

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 29, 2024
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:: RCV001038268.6

Allele description [Variation Report for NM_001130987.2(DYSF):c.350C>T (p.Ser117Leu)]

NM_001130987.2(DYSF):c.350C>T (p.Ser117Leu)

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.2

Genomic location:

Preferred name:

NM_001130987.2(DYSF):c.350C>T (p.Ser117Leu)

HGVS:

NC_000002.12:g.71511811C>T
NG_008694.1:g.63189C>T
NM_001130455.2:c.350C>T
NM_001130976.2:c.347C>T
NM_001130977.2:c.347C>T
NM_001130978.2:c.347C>T
NM_001130979.2:c.347C>T
NM_001130980.2:c.347C>T
NM_001130981.2:c.347C>T
NM_001130982.2:c.350C>T
NM_001130983.2:c.350C>T
NM_001130984.2:c.350C>T
NM_001130985.2:c.350C>T
NM_001130986.2:c.350C>T
NM_001130987.2:c.350C>TMANE SELECT
NM_003494.4:c.347C>T
NP_001123927.1:p.Ser117Leu
NP_001124448.1:p.Ser116Leu
NP_001124449.1:p.Ser116Leu
NP_001124450.1:p.Ser116Leu
NP_001124451.1:p.Ser116Leu
NP_001124452.1:p.Ser116Leu
NP_001124453.1:p.Ser116Leu
NP_001124454.1:p.Ser117Leu
NP_001124455.1:p.Ser117Leu
NP_001124456.1:p.Ser117Leu
NP_001124457.1:p.Ser117Leu
NP_001124458.1:p.Ser117Leu
NP_001124459.1:p.Ser117Leu
NP_003485.1:p.Ser116Leu
LRG_845t1:c.347C>T
LRG_845t2:c.350C>T
LRG_845:g.63189C>T
LRG_845p1:p.Ser116Leu
LRG_845p2:p.Ser117Leu
NC_000002.11:g.71738941C>T
NM_003494.3:c.347C>T
p.Ser116Leu

Protein change:

S116L

Links:

dbSNP: rs199677396

NCBI 1000 Genomes Browser:

rs199677396

Molecular consequence:

NM_001130455.2:c.350C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130976.2:c.347C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130977.2:c.347C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130978.2:c.347C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130979.2:c.347C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130980.2:c.347C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130981.2:c.347C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130982.2:c.350C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130983.2:c.350C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130984.2:c.350C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130985.2:c.350C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130986.2:c.350C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130987.2:c.350C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003494.4:c.347C>T - 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
SCV001201732	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 29, 2024)	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

SCV001201732

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 29, 2024)

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, SCV001201732.4

#	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

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