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NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 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:
RCV004792609.1

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]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005413635Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 13, 2024) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Aärimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A, Lochmüller H.

Brain. 2007 Jun;130(Pt 6):1497-506. Epub 2007 Apr 17.

PubMed [citation]
PMID:
17439981

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

Cossins J, Liu WW, Belaya K, Maxwell S, Oldridge M, Lester T, Robb S, Beeson D.

Hum Mol Genet. 2012 Sep 1;21(17):3765-75. doi: 10.1093/hmg/dds198. Epub 2012 Jun 1.

PubMed [citation]
PMID:
22661499
See all PubMed Citations (3)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV005413635.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

PP4, PM2, PM3, PS4_moderate, PVS1_strong

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 24, 2024