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NM_001109754.4(PTPRB):c.5798G>A (p.Arg1933Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 28, 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:
RCV004274025.1

Allele description [Variation Report for NM_001109754.4(PTPRB):c.5798G>A (p.Arg1933Gln)]

NM_001109754.4(PTPRB):c.5798G>A (p.Arg1933Gln)

Gene:
PTPRB:protein tyrosine phosphatase receptor type B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q15
Genomic location:
Preferred name:
NM_001109754.4(PTPRB):c.5798G>A (p.Arg1933Gln)
HGVS:
  • NC_000012.12:g.70538995C>T
  • NG_029940.2:g.103446G>A
  • NM_001109754.4:c.5798G>AMANE SELECT
  • NM_001206971.3:c.4874G>A
  • NM_001206972.3:c.4874G>A
  • NM_001330204.2:c.5534G>A
  • NM_002837.6:c.5144G>A
  • NP_001103224.1:p.Arg1933Gln
  • NP_001193900.1:p.Arg1625Gln
  • NP_001193901.1:p.Arg1625Gln
  • NP_001317133.1:p.Arg1845Gln
  • NP_002828.3:p.Arg1715Gln
  • NC_000012.11:g.70932775C>T
  • NM_001109754.2:c.5798G>A
Protein change:
R1625Q
Molecular consequence:
  • NM_001109754.4:c.5798G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001206971.3:c.4874G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001206972.3:c.4874G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330204.2:c.5534G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002837.6:c.5144G>A - 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
SCV003908378Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 28, 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, SCV003908378.2

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

Description

The c.5798G>A (p.R1933Q) alteration is located in exon 27 (coding exon 27) of the PTPRB gene. This alteration results from a G to A substitution at nucleotide position 5798, causing the arginine (R) at amino acid position 1933 to be replaced by a glutamine (Q). 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: Nov 10, 2024