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NM_004851.3(NAPSA):c.609G>T (p.Met203Ile) AND Myoepithelial tumor

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 1, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002463917.1

Allele description [Variation Report for NM_004851.3(NAPSA):c.609G>T (p.Met203Ile)]

NM_004851.3(NAPSA):c.609G>T (p.Met203Ile)

Gene:
NAPSA:napsin A aspartic peptidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_004851.3(NAPSA):c.609G>T (p.Met203Ile)
HGVS:
  • NC_000019.10:g.50361000C>A
  • NM_004851.3:c.609G>TMANE SELECT
  • NP_004842.1:p.Met203Ile
  • NC_000019.9:g.50864257C>A
Protein change:
M203I
Molecular consequence:
  • NM_004851.3:c.609G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Myoepithelial tumor
Identifiers:
MONDO: MONDO:0002380; MeSH: D009208; MedGen: C0027070

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002758688Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine
no assertion criteria provided
Uncertain significance
(Nov 1, 2022) 		somaticresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine, SCV002758688.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 11, 2022