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NM_002834.5(PTPN11):c.971A>G (p.Lys324Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 30, 2019
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:
RCV001193712.1

Allele description [Variation Report for NM_002834.5(PTPN11):c.971A>G (p.Lys324Arg)]

NM_002834.5(PTPN11):c.971A>G (p.Lys324Arg)

Gene:
PTPN11:protein tyrosine phosphatase non-receptor type 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.13
Genomic location:
Preferred name:
NM_002834.5(PTPN11):c.971A>G (p.Lys324Arg)
HGVS:
  • NC_000012.12:g.112477894A>G
  • NG_007459.1:g.64163A>G
  • NM_001330437.2:c.971A>G
  • NM_001374625.1:c.968A>G
  • NM_002834.5:c.971A>GMANE SELECT
  • NM_080601.3:c.971A>G
  • NP_001317366.1:p.Lys324Arg
  • NP_001361554.1:p.Lys323Arg
  • NP_002825.3:p.Lys324Arg
  • NP_542168.1:p.Lys324Arg
  • LRG_614t1:c.971A>G
  • LRG_614:g.64163A>G
  • NC_000012.11:g.112915698A>G
  • NM_002834.3:c.971A>G
Protein change:
K323R
Links:
dbSNP: rs772684421
NCBI 1000 Genomes Browser:
rs772684421
Molecular consequence:
  • NM_001330437.2:c.971A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374625.1:c.968A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002834.5:c.971A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080601.3:c.971A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001362751Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(Dec 30, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001362751.1

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

Description

Variant summary: PTPN11 c.971A>G (p.Lys324Arg) results in a conservative amino acid change located in the PTP type protein phosphatase (PTPase) domain (IPR000242) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251402 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.971A>G in individuals affected with Noonan Syndrome and Related Conditions and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Apr 23, 2022