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NM_002834.5(PTPN11):c.931A>G (p.Met311Val) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 4, 2016
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:
RCV002318367.9

Allele description [Variation Report for NM_002834.5(PTPN11):c.931A>G (p.Met311Val)]

NM_002834.5(PTPN11):c.931A>G (p.Met311Val)

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.931A>G (p.Met311Val)
HGVS:
  • NC_000012.12:g.112477728A>G
  • NG_007459.1:g.63997A>G
  • NM_001330437.2:c.931A>G
  • NM_001374625.1:c.928A>G
  • NM_002834.5:c.931A>GMANE SELECT
  • NM_080601.3:c.931A>G
  • NP_001317366.1:p.Met311Val
  • NP_001361554.1:p.Met310Val
  • NP_002825.3:p.Met311Val
  • NP_542168.1:p.Met311Val
  • LRG_614t1:c.931A>G
  • LRG_614:g.63997A>G
  • NC_000012.11:g.112915532A>G
  • NM_002834.3:c.931A>G
  • NM_002834.4:c.931A>G
Protein change:
M310V
Links:
dbSNP: rs774939392
NCBI 1000 Genomes Browser:
rs774939392
Molecular consequence:
  • NM_001330437.2:c.931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374625.1:c.928A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002834.5:c.931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080601.3:c.931A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000850126Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 4, 2016) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.

Ezquieta B, Santomé JL, Carcavilla A, Guillén-Navarro E, Pérez-Aytés A, Sánchez del Pozo J, García-Miñaur S, Castillo E, Alonso M, Vendrell T, Santana A, Maroto E, Galbis L.

Rev Esp Cardiol (Engl Ed). 2012 May;65(5):447-55. doi: 10.1016/j.recesp.2011.12.016. Epub 2012 Mar 31. English, Spanish.

PubMed [citation]
PMID:
22465605

Details of each submission

From Ambry Genetics, SCV000850126.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.M311V variant (also known as c.931A>G), located in coding exon 8 of the PTPN11 gene, results from an A to G substitution at nucleotide position 931. The methionine at codon 311 is replaced by valine, an amino acid with highly similar properties. This variant has been detected in cis with a known PTPN11 mutation, p.Y63C (c.188A>G) in several individuals with suspected Noonan syndrome from two unrelated families (Ezquieta B et al. Rev Esp Cardiol (Engl Ed), 2012 May;65:447-55; Collazo J et al. Rev Esp Cardiol (Engl Ed), 2012 Mar; Volume3N1) ).This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024