NM_001130987.2(DYSF):c.4039C>T (p.Leu1347Phe) AND Qualitative or quantitative defects of dysferlin

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 13, 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:: RCV002644271.2

Allele description

NM_001130987.2(DYSF):c.4039C>T (p.Leu1347Phe)

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.2

Genomic location:

Preferred name:

NM_001130987.2(DYSF):c.4039C>T (p.Leu1347Phe)

HGVS:

NC_000002.12:g.71611326C>T
NG_008694.1:g.162704C>T
NM_001130455.2:c.3988C>T
NM_001130976.2:c.3943C>T
NM_001130977.2:c.3943C>T
NM_001130978.2:c.3985C>T
NM_001130979.2:c.4078C>T
NM_001130980.2:c.4036C>T
NM_001130981.2:c.4036C>T
NM_001130982.2:c.4081C>T
NM_001130983.2:c.3988C>T
NM_001130984.2:c.3946C>T
NM_001130985.2:c.4039C>T
NM_001130986.2:c.3946C>T
NM_001130987.2:c.4039C>TMANE SELECT
NM_003494.4:c.3985C>T
NP_001123927.1:p.Leu1330Phe
NP_001124448.1:p.Leu1315Phe
NP_001124449.1:p.Leu1315Phe
NP_001124450.1:p.Leu1329Phe
NP_001124451.1:p.Leu1360Phe
NP_001124452.1:p.Leu1346Phe
NP_001124453.1:p.Leu1346Phe
NP_001124454.1:p.Leu1361Phe
NP_001124455.1:p.Leu1330Phe
NP_001124456.1:p.Leu1316Phe
NP_001124457.1:p.Leu1347Phe
NP_001124458.1:p.Leu1316Phe
NP_001124459.1:p.Leu1347Phe
NP_003485.1:p.Leu1329Phe
LRG_845t1:c.3985C>T
LRG_845t2:c.4039C>T
LRG_845:g.162704C>T
LRG_845p1:p.Leu1329Phe
LRG_845p2:p.Leu1347Phe
NC_000002.11:g.71838456C>T

Protein change:

L1315F

Molecular consequence:

NM_001130455.2:c.3988C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130976.2:c.3943C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130977.2:c.3943C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130978.2:c.3985C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130979.2:c.4078C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130980.2:c.4036C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130981.2:c.4036C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130982.2:c.4081C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130983.2:c.3988C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130984.2:c.3946C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130985.2:c.4039C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130986.2:c.3946C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130987.2:c.4039C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003494.4:c.3985C>T - 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

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biosample
neurotrophin-4 isoform X2 [Homo sapiens]
neurotrophin-4 isoform X2 [Homo sapiens]
gi|2462565625|ref|XP_054177097.1|

Protein
Paullinia paullinioides voucher Acevedo 7519 internal transcribed spacer 2 and l...
Paullinia paullinioides voucher Acevedo 7519 internal transcribed spacer 2 and large subunit ribosomal RNA gene, partial sequence
gi|2085179227|gb|MZ892331.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003522108	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 13, 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

SCV003522108

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 13, 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 Invitae, SCV003522108.2

#	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: Feb 20, 2024

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