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NM_001286554.2(USP49):c.551A>C (p.Glu184Ala) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 17, 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:
RCV004140874.1

Allele description [Variation Report for NM_001286554.2(USP49):c.551A>C (p.Glu184Ala)]

NM_001286554.2(USP49):c.551A>C (p.Glu184Ala)

Gene:
USP49:ubiquitin specific peptidase 49 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_001286554.2(USP49):c.551A>C (p.Glu184Ala)
HGVS:
  • NC_000006.12:g.41806433T>G
  • NM_001286554.2:c.551A>CMANE SELECT
  • NM_001384542.1:c.551A>C
  • NM_018561.5:c.551A>C
  • NP_001273483.1:p.Glu184Ala
  • NP_001371471.1:p.Glu184Ala
  • NP_061031.2:p.Glu184Ala
  • NC_000006.11:g.41774171T>G
  • NM_018561.3:c.551A>C
Protein change:
E184A
Molecular consequence:
  • NM_001286554.2:c.551A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384542.1:c.551A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018561.5:c.551A>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003626763Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 17, 2022) 		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, SCV003626763.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 10, 2024