NM_020812.4(DOCK6):c.398C>T (p.Ala133Val) AND Adams-Oliver syndrome 2

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 20, 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:: RCV004720368.1

Allele description [Variation Report for NM_020812.4(DOCK6):c.398C>T (p.Ala133Val)]

NM_020812.4(DOCK6):c.398C>T (p.Ala133Val)

Gene:

DOCK6:dedicator of cytokinesis 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_020812.4(DOCK6):c.398C>T (p.Ala133Val)

HGVS:

NC_000019.10:g.11252228G>A
NG_031953.1:g.15265C>T
NM_001367830.1:c.398C>T
NM_020812.4:c.398C>TMANE SELECT
NP_001354759.1:p.Ala133Val
NP_065863.2:p.Ala133Val
NC_000019.9:g.11362904G>A

Protein change:

A133V

Molecular consequence:

NM_001367830.1:c.398C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_020812.4:c.398C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Adams-Oliver syndrome 2 (AOS2)
Identifiers:: MONDO: MONDO:0013635; MedGen: C3280182; Orphanet: 974; OMIM: 614219

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005328920	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Sep 20, 2024)	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

SCV005328920

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Sep 20, 2024)

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	no	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 3billion, SCV005328920.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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