NM_005107.4(EXOG):c.893C>G (p.Thr298Ser) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 30, 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:: RCV004292426.1

Allele description [Variation Report for NM_005107.4(EXOG):c.893C>G (p.Thr298Ser)]

NM_005107.4(EXOG):c.893C>G (p.Thr298Ser)

Gene:

EXOG:exo/endonuclease G [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_005107.4(EXOG):c.893C>G (p.Thr298Ser)

HGVS:

NC_000003.12:g.38524148C>G
NM_001145464.2:c.743C>G
NM_005107.4:c.893C>GMANE SELECT
NP_001138936.1:p.Thr248Ser
NP_005098.2:p.Thr298Ser
NC_000003.11:g.38565639C>G
NM_005107.3:c.893C>G
NR_134938.2:n.946C>G
NR_153322.2:n.827C>G
NR_153323.2:n.1394C>G
NR_153324.2:n.832C>G
NR_153325.2:n.891C>G
NR_153326.2:n.989C>G
NR_153327.2:n.988C>G
NR_153328.2:n.1127C>G
NR_153329.2:n.1045C>G
NR_153330.2:n.1083C>G

Protein change:

T248S

Molecular consequence:

NM_001145464.2:c.743C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005107.4:c.893C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_134938.2:n.946C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_153322.2:n.827C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_153323.2:n.1394C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_153324.2:n.832C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_153325.2:n.891C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_153326.2:n.989C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_153327.2:n.988C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_153328.2:n.1127C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_153329.2:n.1045C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_153330.2:n.1083C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Salmonella enterica subsp. enterica serovar Kedougou strain SA22 contig_2, whole...
Salmonella enterica subsp. enterica serovar Kedougou strain SA22 contig_2, whole genome shotgun sequence
gi|2798586133|ref|NZ_JBGSHF01000000 gnl|WGS:NZ_JBGSHF01|contig_2

Nucleotide
Salmonella enterica subsp. enterica serovar Kedougou strain SA76 contig_3, whole...
Salmonella enterica subsp. enterica serovar Kedougou strain SA76 contig_3, whole genome shotgun sequence
gi|2798587656|ref|NZ_JBGSHD01000000 gnl|WGS:NZ_JBGSHD01|contig_3

Nucleotide
DTOL_RD8092207
DTOL_RD8092207

biosample
Salmonella enterica subsp. enterica serovar Kedougou strain SA613 plasmid unname...
Salmonella enterica subsp. enterica serovar Kedougou strain SA613 plasmid unnamed3, complete sequence
gi|2575055880|ref|NZ_CP133424.1|

Nucleotide
Salmonella enterica subsp. diarizonae serovar 61:k:1,5,(7) strain 14-SA00836-0 p...
Salmonella enterica subsp. diarizonae serovar 61:k:1,5,(7) strain 14-SA00836-0 plasmid p14-SA00836-0, complete sequence
gi|1851977149|gb|CP054423.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003948051	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 30, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003948051

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 30, 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, SCV003948051.2

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

Description

The c.893C>G (p.T298S) alteration is located in exon 6 (coding exon 6) of the EXOG gene. This alteration results from a C to G substitution at nucleotide position 893, causing the threonine (T) at amino acid position 298 to be replaced by a serine (S). 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: Nov 10, 2024

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