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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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004977498Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 12, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004977498.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024