NM_001098536.2(USP5):c.1483G>A (p.Ala495Thr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 12, 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:: RCV004477577.1

Allele description [Variation Report for NM_001098536.2(USP5):c.1483G>A (p.Ala495Thr)]

NM_001098536.2(USP5):c.1483G>A (p.Ala495Thr)

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.1483G>A (p.Ala495Thr)

HGVS:

NC_000012.12:g.6861091G>A
NM_001098536.2:c.1483G>AMANE SELECT
NM_001382588.1:c.1357G>A
NM_001382589.1:c.1357G>A
NM_001382590.1:c.1345G>A
NM_001382591.1:c.1411G>A
NM_003481.3:c.1483G>A
NP_001092006.1:p.Ala495Thr
NP_001369517.1:p.Ala453Thr
NP_001369518.1:p.Ala453Thr
NP_001369519.1:p.Ala449Thr
NP_001369520.1:p.Ala471Thr
NP_003472.2:p.Ala495Thr
NC_000012.11:g.6970255G>A
NM_001098536.1:c.1483G>A
NR_168449.1:n.1513G>A
NR_168450.1:n.1328G>A
NR_168452.1:n.1513G>A
NR_168454.1:n.1513G>A
NR_168455.1:n.1513G>A
NR_168456.1:n.1513G>A
NR_168457.1:n.1425G>A
NR_168458.1:n.1639G>A

Protein change:

A449T

Molecular consequence:

NM_001098536.2:c.1483G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382588.1:c.1357G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382589.1:c.1357G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382590.1:c.1345G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382591.1:c.1411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003481.3:c.1483G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_168449.1:n.1513G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_168450.1:n.1328G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_168452.1:n.1513G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_168454.1:n.1513G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_168455.1:n.1513G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_168456.1:n.1513G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_168457.1:n.1425G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_168458.1:n.1639G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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GcrA family cell cycle regulator [Magnetospira sp. QH-2]
GcrA family cell cycle regulator [Magnetospira sp. QH-2]
gi|919160426|ref|WP_052716057.1|

Protein
BX110829 Soares pineal gland 3NbHPG Homo sapiens cDNA clone IMAGp998O24464; IMAG...
BX110829 Soares pineal gland 3NbHPG Homo sapiens cDNA clone IMAGp998O24464; IMAGE:231023 5', mRNA sequence
gi|27836658|gnl|dbEST|16742476|emb| 829.1|

Nucleotide
Mus musculus STARR-positive B cell enhancer ABC_E2453 (LOC132443864) on chromoso...
Mus musculus STARR-positive B cell enhancer ABC_E2453 (LOC132443864) on chromosome 15
gi|2589144788|ref|NG_240286.1|

Nucleotide
cathelicidin-1 [Coturnix japonica]
cathelicidin-1 [Coturnix japonica]
gi|2843575460|dbj|BEI45494.1|

Protein
RNA-binding motif protein, Y chromosome, family 1 member F/J-like isoform X2 [Pa...
RNA-binding motif protein, Y chromosome, family 1 member F/J-like isoform X2 [Pan paniscus]
gi|2490811064|ref|XP_054962978.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004977498	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 12, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004977498

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 12, 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, SCV004977498.1

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

Description

The c.1483G>A (p.A495T) alteration is located in exon 12 (coding exon 12) of the USP5 gene. This alteration results from a G to A substitution at nucleotide position 1483, causing the alanine (A) at amino acid position 495 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: May 7, 2024

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