NM_001098536.2(USP5):c.1180C>A (p.Pro394Thr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 10, 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:: RCV004169461.1

Allele description [Variation Report for NM_001098536.2(USP5):c.1180C>A (p.Pro394Thr)]

NM_001098536.2(USP5):c.1180C>A (p.Pro394Thr)

Gene:

USP5:ubiquitin specific peptidase 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

Preferred name:

NM_001098536.2(USP5):c.1180C>A (p.Pro394Thr)

HGVS:

NC_000012.12:g.6860200C>A
NM_001098536.2:c.1180C>AMANE SELECT
NM_001382588.1:c.1054C>A
NM_001382589.1:c.1054C>A
NM_001382590.1:c.1042C>A
NM_001382591.1:c.1108C>A
NM_003481.3:c.1180C>A
NP_001092006.1:p.Pro394Thr
NP_001369517.1:p.Pro352Thr
NP_001369518.1:p.Pro352Thr
NP_001369519.1:p.Pro348Thr
NP_001369520.1:p.Pro370Thr
NP_003472.2:p.Pro394Thr
NC_000012.11:g.6969364C>A
NM_001098536.1:c.1180C>A
NR_168449.1:n.1210C>A
NR_168450.1:n.1025C>A
NR_168451.1:n.1210C>A
NR_168452.1:n.1210C>A
NR_168454.1:n.1210C>A
NR_168455.1:n.1210C>A
NR_168456.1:n.1210C>A
NR_168458.1:n.1336C>A

Protein change:

P348T

Molecular consequence:

NM_001098536.2:c.1180C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382588.1:c.1054C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382589.1:c.1054C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382590.1:c.1042C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382591.1:c.1108C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003481.3:c.1180C>A - missense variant - [Sequence Ontology: SO:0001583]
NR_168449.1:n.1210C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_168450.1:n.1025C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_168451.1:n.1210C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_168452.1:n.1210C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_168454.1:n.1210C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_168455.1:n.1210C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_168456.1:n.1210C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_168458.1:n.1336C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Thamnophis saurita isolate H08865 35 G protein-coupled receptor 149 (R35) gene, ...
Thamnophis saurita isolate H08865 35 G protein-coupled receptor 149 (R35) gene, partial cds
gi|984405672|gb|KT884232.1|

Nucleotide
Homo sapiens solute carrier family 10 member 3 (SLC10A3), transcript variant 1, ...
Homo sapiens solute carrier family 10 member 3 (SLC10A3), transcript variant 1, mRNA
gi|541862383|ref|NM_019848.4|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003659300	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 10, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003659300

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 10, 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, SCV003659300.2

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

Description

The c.1180C>A (p.P394T) alteration is located in exon 10 (coding exon 10) of the USP5 gene. This alteration results from a C to A substitution at nucleotide position 1180, causing the proline (P) at amino acid position 394 to be replaced by a threonine (T). 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 3, 2024

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