NM_173660.5(DOK7):c.577A>G (p.Ser193Gly) AND not provided

Germline classification:: Uncertain significance (4 submissions)
Last evaluated:: May 10, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000734143.10

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]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Ipo8 [Heterocephalus glaber]
Ipo8 [Heterocephalus glaber]
Gene ID:101697651

Gene
lgt [Proteus mirabilis HI4320]
lgt [Proteus mirabilis HI4320]
Gene ID:6800112

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000564944	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jan 3, 2020)	germline	clinical testing	Citation Link,
SCV000862261	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Uncertain significance (Jul 13, 2018)	germline	clinical testing	Citation Link,
SCV003832174	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 3, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004226966	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 10, 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	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	2	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 GeneDx, SCV000564944.4

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect Observed in 0.031% (86/277520 alleles) in large population cohorts (Lek et al., 2016) Has not been previously published as pathogenic or benign to our knowledge

#	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		not provided	not provided	not provided	not provided

From Eurofins Ntd Llc (ga), SCV000862261.1

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

#	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		1	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003832174.2

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV004226966.1

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

Last Updated: May 7, 2024

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