NM_001387360.1(TRIM9):c.925A>G (p.Ser309Gly) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 27, 2022
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:: RCV004166523.1

Allele description [Variation Report for NM_001387360.1(TRIM9):c.925A>G (p.Ser309Gly)]

NM_001387360.1(TRIM9):c.925A>G (p.Ser309Gly)

Gene:

TRIM9:tripartite motif containing 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q22.1

Genomic location:

Preferred name:

NM_001387360.1(TRIM9):c.925A>G (p.Ser309Gly)

HGVS:

NC_000014.9:g.51022951T>C
NM_001387360.1:c.925A>GMANE SELECT
NM_001387361.1:c.925A>G
NM_001387362.1:c.925A>G
NM_001387363.1:c.925A>G
NM_001387364.1:c.925A>G
NM_001387365.1:c.925A>G
NM_001387366.1:c.925A>G
NM_001387367.1:c.925A>G
NM_001387368.1:c.925A>G
NM_001387369.1:c.823-12457A>G
NM_001387370.1:c.925A>G
NM_001387371.1:c.922A>G
NM_001387372.1:c.925A>G
NM_001387373.1:c.925A>G
NM_001387374.1:c.823-12457A>G
NM_001387375.1:c.925A>G
NM_001387376.1:c.925A>G
NM_001387377.1:c.925A>G
NM_001387378.1:c.823-12457A>G
NM_001387379.1:c.925A>G
NM_001387380.1:c.823-12457A>G
NM_015163.6:c.925A>G
NM_052978.5:c.925A>G
NP_001374289.1:p.Ser309Gly
NP_001374290.1:p.Ser309Gly
NP_001374291.1:p.Ser309Gly
NP_001374292.1:p.Ser309Gly
NP_001374293.1:p.Ser309Gly
NP_001374294.1:p.Ser309Gly
NP_001374295.1:p.Ser309Gly
NP_001374296.1:p.Ser309Gly
NP_001374297.1:p.Ser309Gly
NP_001374299.1:p.Ser309Gly
NP_001374300.1:p.Ser308Gly
NP_001374301.1:p.Ser309Gly
NP_001374302.1:p.Ser309Gly
NP_001374304.1:p.Ser309Gly
NP_001374305.1:p.Ser309Gly
NP_001374306.1:p.Ser309Gly
NP_001374308.1:p.Ser309Gly
NP_055978.4:p.Ser309Gly
NP_443210.1:p.Ser309Gly
NC_000014.8:g.51489669T>C
NM_015163.5:c.925A>G
NR_170640.1:n.1171A>G
NR_170641.1:n.1091A>G
NR_170642.1:n.1091A>G
NR_170643.1:n.1091A>G
NR_170644.1:n.1091A>G
NR_170645.1:n.1091A>G
NR_170646.1:n.1091A>G
NR_170647.1:n.1091A>G
NR_170648.1:n.1171A>G
NR_170649.1:n.1091A>G
NR_170650.1:n.1168A>G
NR_170651.1:n.1171A>G
NR_170652.1:n.1091A>G

Protein change:

S308G

Molecular consequence:

NM_001387369.1:c.823-12457A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001387374.1:c.823-12457A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001387378.1:c.823-12457A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001387380.1:c.823-12457A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001387360.1:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387361.1:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387362.1:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387363.1:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387364.1:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387365.1:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387366.1:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387367.1:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387368.1:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387370.1:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387371.1:c.922A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387372.1:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387373.1:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387375.1:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387376.1:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387377.1:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387379.1:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_015163.6:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_052978.5:c.925A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_170640.1:n.1171A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170641.1:n.1091A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170642.1:n.1091A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170643.1:n.1091A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170644.1:n.1091A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170645.1:n.1091A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170646.1:n.1091A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170647.1:n.1091A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170648.1:n.1171A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170649.1:n.1091A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170650.1:n.1168A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170651.1:n.1171A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170652.1:n.1091A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Homo sapiens syndecan 3, mRNA (cDNA clone IMAGE:4121937), with apparent retained...
Homo sapiens syndecan 3, mRNA (cDNA clone IMAGE:4121937), with apparent retained intron
gi|33871567|gb|BC013974.2|

Nucleotide
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Homo sapiens tetraspanin 15, mRNA (cDNA clone MGC:4120 IMAGE:2958221), complete cds
gi|13111968|gb|BC003157.1|

Nucleotide
Homo sapiens peptidylprolyl isomerase A (cyclophilin A), mRNA (cDNA clone MGC:14...
Homo sapiens peptidylprolyl isomerase A (cyclophilin A), mRNA (cDNA clone MGC:14747 IMAGE:4281376), complete cds
gi|13937980|gb|BC007104.1|

Nucleotide
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Human T-cell receptor rearranged beta-chain V-region (V-D-J) mRNA, clone ph8
gi|338875|gb|M14264.1|HUMTCBVF

Nucleotide
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Human T-cell receptor V beta-chain 6.12 (TCRB) pseudogene (allele a)
gi|292888|gb|M97503.1|HUMVB12A

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003647710	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 27, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003647710

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 27, 2022)

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, SCV003647710.2

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

Description

The c.925A>G (p.S309G) alteration is located in exon 3 (coding exon 3) of the TRIM9 gene. This alteration results from a A to G substitution at nucleotide position 925, causing the serine (S) at amino acid position 309 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: Nov 10, 2024

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