U.S. flag

An official website of the United States government

NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs) AND Congenital myasthenic syndrome 10

Germline classification:
Pathogenic (1 submission)
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:
RCV001004170.1

Allele description [Variation Report for NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs)]

NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs)

Gene:
DOK7:docking protein 7 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs)
Other names:
p.Asp433Argfs*18
HGVS:
  • NC_000004.12:g.3493282_3493297del
  • NG_013072.2:g.34977_34992del
  • NM_001164673.2:c.*517_*532del
  • NM_001256896.2:c.366_381del
  • NM_001301071.2:c.1296_1311del
  • NM_001363811.2:c.864_879del
  • NM_173660.5:c.1296_1311delMANE SELECT
  • NP_001243825.1:p.Asp123fs
  • NP_001288000.1:p.Asp433fs
  • NP_001350740.1:p.Asp289fs
  • NP_775931.3:p.Asp433fs
  • LRG_869t1:c.1296_1311del
  • LRG_869:g.34977_34992del
  • LRG_869p1:p.Asp433fs
  • NC_000004.11:g.3495001_3495016del
  • NC_000004.11:g.3495009_3495024del
  • NC_000004.11:g.3495009_3495024delGGACTCAGGCGGCCAG
Protein change:
D123fs
Links:
dbSNP: rs778172294
NCBI 1000 Genomes Browser:
rs778172294
Molecular consequence:
  • NM_001164673.2:c.*517_*532del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001256896.2:c.366_381del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001301071.2:c.1296_1311del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363811.2:c.864_879del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_173660.5:c.1296_1311del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Congenital myasthenic syndrome 10
Synonyms:
Myasthenia, limb-girdle, familial
Identifiers:
MONDO: MONDO:0009690; MedGen: C1850792; Orphanet: 590; OMIM: 254300

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001162967Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicgermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 Baylor Genetics, SCV001162967.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024