NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 5, 2010
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:: RCV000037606.5

Allele description [Variation Report for NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys)]

NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys)

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.1124A>G (p.Tyr375Cys)

HGVS:

NC_000012.12:g.112482105A>G
NG_007459.1:g.68374A>G
NM_001330437.2:c.1124A>G
NM_001374625.1:c.1121A>G
NM_002834.5:c.1124A>GMANE SELECT
NM_080601.3:c.1124A>G
NP_001317366.1:p.Tyr375Cys
NP_001361554.1:p.Tyr374Cys
NP_002825.3:p.Tyr375Cys
NP_542168.1:p.Tyr375Cys
LRG_614t1:c.1124A>G
LRG_614:g.68374A>G
NC_000012.11:g.112919909A>G
NM_002834.3:c.1124A>G
c.1124A>G

Protein change:

Y374C

Links:

dbSNP: rs41299183

NCBI 1000 Genomes Browser:

rs41299183

Molecular consequence:

NM_001330437.2:c.1124A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374625.1:c.1121A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002834.5:c.1124A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_080601.3:c.1124A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000061267	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Nov 5, 2010)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000061267

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Nov 5, 2010)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061267.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Benign. The Tyr375Cys varia nt in PTPN11 has not previously been reported in the literature or been observed identified in our laboratory, although it is listed in dbSNP (rs41299183, not v alidated). Tyrosine (Tyr) at amino acid position 375 is not highly conserved in different species, and two different computational analyses predict this variant to have a benign effect on the function of the protein. However, in the absence of additional data, the clinical significance of this variant cannot be determi ned at this time.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Feb 25, 2025

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