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NM_002844.4(PTPRK):c.1424G>A (p.Arg475Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 23, 2024
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:
RCV004445339.1

Allele description [Variation Report for NM_002844.4(PTPRK):c.1424G>A (p.Arg475Lys)]

NM_002844.4(PTPRK):c.1424G>A (p.Arg475Lys)

Gene:
PTPRK:protein tyrosine phosphatase receptor type K [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.33
Genomic location:
Preferred name:
NM_002844.4(PTPRK):c.1424G>A (p.Arg475Lys)
HGVS:
  • NC_000006.12:g.128089731C>T
  • NM_001135648.3:c.1424G>A
  • NM_001291981.2:c.1424G>A
  • NM_001291982.2:c.1424G>A
  • NM_001291983.2:c.1037G>A
  • NM_001291984.2:c.1424G>A
  • NM_002844.4:c.1424G>AMANE SELECT
  • NP_001129120.1:p.Arg475Lys
  • NP_001278910.1:p.Arg475Lys
  • NP_001278911.1:p.Arg475Lys
  • NP_001278912.1:p.Arg346Lys
  • NP_001278913.1:p.Arg475Lys
  • NP_002835.2:p.Arg475Lys
  • NC_000006.11:g.128410876C>T
  • NM_001135648.1:c.1424G>A
Protein change:
R346K
Molecular consequence:
  • NM_001135648.3:c.1424G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291981.2:c.1424G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291982.2:c.1424G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291983.2:c.1037G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291984.2:c.1424G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002844.4:c.1424G>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
SCV004937116Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 23, 2024) 		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, SCV004937116.1

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

Description

The c.1424G>A (p.R475K) alteration is located in exon 8 (coding exon 8) of the PTPRK gene. This alteration results from a G to A substitution at nucleotide position 1424, causing the arginine (R) at amino acid position 475 to be replaced by a lysine (K). 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