U.S. flag

An official website of the United States government

NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) AND DOK7-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 25, 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:
RCV003398412.5

Allele description [Variation Report for NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)]

NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)

Gene:
DOK7:docking protein 7 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
Other names:
p.Ala378SerfsX30; p.Ala378Serfs*30
HGVS:
  • NC_000004.11:g.3494837_3494840dup
  • NC_000004.12:g.3493110_3493113dup
  • NG_013072.2:g.34805_34808dup
  • NM_001164673.2:c.*345_*348dup
  • NM_001256896.2:c.194_197dup
  • NM_001301071.2:c.1124_1127dup
  • NM_001363811.2:c.692_695dup
  • NM_173660.5:c.1124_1127dupMANE SELECT
  • NP_001243825.1:p.Ala68fs
  • NP_001288000.1:p.Ala378fs
  • NP_001350740.1:p.Ala234fs
  • NP_775931.3:p.Ala378fs
  • LRG_869t1:c.1124_1127dup
  • LRG_869:g.34805_34808dup
  • LRG_869p1:p.Ala378fs
  • NC_000004.11:g.3494833_3494834insGCCT
  • NC_000004.11:g.3494837_3494840dup
  • NC_000004.11:g.3494837_3494840dupTGCC
  • NC_000004.11:g.3494837_3494840dupTGCC
  • NC_000004.11:g.3494840_3494841insTGCC
  • NC_000004.12:g.3493106_3493107insGCCT
  • NC_000004.12:g.3493113_3493114insTGCC
  • NM_001301071.1:c.1124_1127dup
  • NM_001301071.2:c.1124_1127dup
  • NM_173660.4:c.1124_1127dupTGCC
  • NM_173660.5:c.1120_1121insGCCTMANE SELECT
  • NM_173660.5:c.1124_1127dupTGCCMANE SELECT
  • NP_775931.3:p.Ala378SerfsTer30
Protein change:
A234fs
Links:
OMIM: 610285.0001; dbSNP: rs606231128
NCBI 1000 Genomes Browser:
rs606231128
Molecular consequence:
  • NM_001164673.2:c.*345_*348dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001256896.2:c.194_197dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001301071.2:c.1124_1127dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363811.2:c.692_695dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_173660.5:c.1124_1127dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
DOK7-related disorder
Synonyms:
DOK7-related condition
Identifiers:

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
SCV004104232PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 25, 2024) 		germlineclinical 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 PreventionGenetics, part of Exact Sciences, SCV004104232.2

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

Description

The DOK7 c.1124_1127dupTGCC variant is predicted to result in a frameshift and premature protein termination (p.Ala378Serfs*30). This variant has been reported in many unrelated individuals to be causative for autosomal recessive congenital myasthenic syndrome (Beeson et al. 2006. PubMed ID: 16917026; Cossins et al. 2012. PubMed ID: 22661499; Natera-de Benito et al. 2017. PubMed ID: 29054425). This variant is reported in 0.12% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Frameshift variants in DOK7 are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: May 12, 2024