NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 29, 2021
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:: RCV003144430.3

Allele description [Variation Report for NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met)]

NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met)

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.2

Genomic location:

Preferred name:

NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met)

HGVS:

NC_000002.12:g.71669174C>T
NG_008694.1:g.220552C>T
NM_001130455.2:c.5495C>T
NM_001130976.2:c.5450C>T
NM_001130977.2:c.5513C>T
NM_001130978.2:c.5555C>T
NM_001130979.2:c.5585C>T
NM_001130980.2:c.5543C>T
NM_001130981.2:c.5606C>T
NM_001130982.2:c.5588C>T
NM_001130983.2:c.5558C>T
NM_001130984.2:c.5516C>T
NM_001130985.2:c.5546C>T
NM_001130986.2:c.5453C>T
NM_001130987.2:c.5609C>TMANE SELECT
NM_003494.4:c.5492C>T
NP_001123927.1:p.Thr1832Met
NP_001124448.1:p.Thr1817Met
NP_001124449.1:p.Thr1838Met
NP_001124450.1:p.Thr1852Met
NP_001124451.1:p.Thr1862Met
NP_001124452.1:p.Thr1848Met
NP_001124453.1:p.Thr1869Met
NP_001124454.1:p.Thr1863Met
NP_001124455.1:p.Thr1853Met
NP_001124456.1:p.Thr1839Met
NP_001124457.1:p.Thr1849Met
NP_001124458.1:p.Thr1818Met
NP_001124459.1:p.Thr1870Met
NP_003485.1:p.Thr1831Met
LRG_845t1:c.5492C>T
LRG_845t2:c.5609C>T
LRG_845:g.220552C>T
LRG_845p1:p.Thr1831Met
LRG_845p2:p.Thr1870Met
NC_000002.11:g.71896304C>T
NM_003494.3:c.5492C>T

Protein change:

T1817M

Links:

dbSNP: rs199649417

NCBI 1000 Genomes Browser:

rs199649417

Molecular consequence:

NM_001130455.2:c.5495C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130976.2:c.5450C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130977.2:c.5513C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130978.2:c.5555C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130979.2:c.5585C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130980.2:c.5543C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130981.2:c.5606C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130982.2:c.5588C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130983.2:c.5558C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130984.2:c.5516C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130985.2:c.5546C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130986.2:c.5453C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130987.2:c.5609C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003494.4:c.5492C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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CELLULOSE SYNTHASE INTERACTIVE 2 [Arabidopsis thaliana]
CELLULOSE SYNTHASE INTERACTIVE 2 [Arabidopsis thaliana]
gi|15219352|ref|NP_175078.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003831327	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 29, 2021)	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

SCV003831327

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 29, 2021)

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 Revvity Omics, Revvity, SCV003831327.2

#	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: Sep 29, 2024

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