NM_173660.5(DOK7):c.577A>G (p.Ser193Gly) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 15, 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:: RCV003243142.2

Allele description [Variation Report for NM_173660.5(DOK7):c.577A>G (p.Ser193Gly)]

NM_173660.5(DOK7):c.577A>G (p.Ser193Gly)

Genes:

LOC126806951:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:3486115-3487314 [Gene]
DOK7:docking protein 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

Preferred name:

NM_173660.5(DOK7):c.577A>G (p.Ser193Gly)

Other names:

p.Ser193Gly

HGVS:

NC_000004.12:g.3485583A>G
NG_013072.2:g.27278A>G
NM_001164673.2:c.566A>G
NM_001256896.2:c.-354A>G
NM_001301071.2:c.577A>G
NM_001363811.2:c.145A>G
NM_173660.5:c.577A>GMANE SELECT
NP_001158145.1:p.Gln189Arg
NP_001288000.1:p.Ser193Gly
NP_001350740.1:p.Ser49Gly
NP_775931.3:p.Ser193Gly
LRG_869t1:c.577A>G
LRG_869:g.27278A>G
LRG_869p1:p.Ser193Gly
NC_000004.11:g.3487310A>G
NM_173660.4:c.577A>G

Protein change:

Q189R

Links:

dbSNP: rs139133047

NCBI 1000 Genomes Browser:

rs139133047

Molecular consequence:

NM_001256896.2:c.-354A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001164673.2:c.566A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001301071.2:c.577A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001363811.2:c.145A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_173660.5:c.577A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

57472564[uid] AND (alive[prop]) (0)
Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003953215	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 15, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003953215

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 15, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003953215.2

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

Description

The c.577A>G (p.S193G) alteration is located in exon 5 (coding exon 5) of the DOK7 gene. This alteration results from a A to G substitution at nucleotide position 577, causing the serine (S) at amino acid position 193 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine