NM_001290223.2(DOCK1):c.2012T>A (p.Phe671Tyr) AND Temporomandibular joint disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 2, 2023
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:: RCV003250827.1

Allele description [Variation Report for NM_001290223.2(DOCK1):c.2012T>A (p.Phe671Tyr)]

NM_001290223.2(DOCK1):c.2012T>A (p.Phe671Tyr)

Gene:

DOCK1:dedicator of cytokinesis 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.2

Genomic location:

Preferred name:

NM_001290223.2(DOCK1):c.2012T>A (p.Phe671Tyr)

HGVS:

NC_000010.11:g.127042626T>A
NG_033919.2:g.142173T>A
NG_033919.3:g.142200T>A
NM_001290223.2:c.2012T>AMANE SELECT
NM_001377543.1:c.1949T>A
NM_001377544.1:c.1985T>A
NM_001377546.1:c.2012T>A
NM_001377547.1:c.1886T>A
NM_001377548.1:c.1865T>A
NM_001377550.1:c.1850T>A
NM_001377553.1:c.1949T>A
NM_001377554.1:c.1796T>A
NM_001377556.1:c.1949T>A
NM_001377558.1:c.1796T>A
NM_001377560.1:c.1157T>A
NM_001377561.1:c.2012T>A
NM_001380.5:c.1949T>A
NP_001277152.2:p.Phe671Tyr
NP_001364472.1:p.Phe650Tyr
NP_001364473.1:p.Phe662Tyr
NP_001364475.1:p.Phe671Tyr
NP_001364476.1:p.Phe629Tyr
NP_001364477.1:p.Phe622Tyr
NP_001364479.1:p.Phe617Tyr
NP_001364482.1:p.Phe650Tyr
NP_001364483.1:p.Phe599Tyr
NP_001364485.1:p.Phe650Tyr
NP_001364487.1:p.Phe599Tyr
NP_001364489.1:p.Phe386Tyr
NP_001364490.1:p.Phe671Tyr
NP_001371.2:p.Phe650Tyr
NC_000010.10:g.128840890T>A
NM_001380.3:c.1949T>A

Protein change:

F386Y

Links:

dbSNP: rs1466192762

NCBI 1000 Genomes Browser:

rs1466192762

Molecular consequence:

NM_001290223.2:c.2012T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377543.1:c.1949T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377544.1:c.1985T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377546.1:c.2012T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377547.1:c.1886T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377548.1:c.1865T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377550.1:c.1850T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377553.1:c.1949T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377554.1:c.1796T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377556.1:c.1949T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377558.1:c.1796T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377560.1:c.1157T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377561.1:c.2012T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001380.5:c.1949T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Temporomandibular joint disorder
Identifiers:: MONDO: MONDO:0005473; MeSH: D013705; MedGen: C0039494

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003936087	Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences See additional submitters Genomic Research Center, Shahid Beheshti University of Medical Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 2, 2023)	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

SCV003936087

Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 2, 2023)

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	yes	9	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 Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, SCV003936087.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	9	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	yes	not provided	not provided	not provided		9	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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