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NM_002834.5(PTPN11):c.996C>T (p.Gly332=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 24, 2020
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:
RCV001264432.2

Allele description [Variation Report for NM_002834.5(PTPN11):c.996C>T (p.Gly332=)]

NM_002834.5(PTPN11):c.996C>T (p.Gly332=)

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.996C>T (p.Gly332=)
Other names:
p.G332G
HGVS:
  • NC_000012.12:g.112477919C>T
  • NG_007459.1:g.64188C>T
  • NM_001330437.2:c.996C>T
  • NM_001374625.1:c.993C>T
  • NM_002834.5:c.996C>TMANE SELECT
  • NM_080601.3:c.996C>T
  • NP_001317366.1:p.Gly332=
  • NP_001361554.1:p.Gly331=
  • NP_002825.3:p.Gly332=
  • NP_002825.3:p.Gly332=
  • NP_542168.1:p.Gly332=
  • LRG_614t1:c.996C>T
  • LRG_614:g.64188C>T
  • NC_000012.11:g.112915723C>T
  • NM_002834.3:c.996C>T
  • NM_002834.4:c.996C>T
Links:
dbSNP: rs397507533
NCBI 1000 Genomes Browser:
rs397507533
Molecular consequence:
  • NM_001330437.2:c.996C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374625.1:c.993C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002834.5:c.996C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_080601.3:c.996C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001442573Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Likely benign
(Oct 24, 2020)
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, SCV001442573.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024