NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) AND Metachondromatosis

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 2, 2022
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:: RCV003147313.8

Allele description [Variation Report for NM_002834.5(PTPN11):c.1530G>C (p.Gln510His)]

NM_002834.5(PTPN11):c.1530G>C (p.Gln510His)

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.1530G>C (p.Gln510His)

Other names:

p.Q510H:CAG>CAC; NM_002834.4(PTPN11):c.1530G>C

HGVS:

NC_000012.12:g.112489106G>C
NG_007459.1:g.75375G>C
NM_001330437.2:c.1542G>C
NM_001374625.1:c.1527G>C
NM_002834.5:c.1530G>CMANE SELECT
NP_001317366.1:p.Gln514His
NP_001361554.1:p.Gln509His
NP_002825.3:p.Gln510His
NP_002825.3:p.Gln510His
LRG_614t1:c.1530G>C
LRG_614:g.75375G>C
LRG_614p1:p.Gln510His
NC_000012.11:g.112926910G>C
NM_002834.3:c.1530G>C
NM_002834.4:c.1530G>C

Protein change:

Q509H

Links:

dbSNP: rs397507550

NCBI 1000 Genomes Browser:

rs397507550

Molecular consequence:

NM_001330437.2:c.1542G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374625.1:c.1527G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002834.5:c.1530G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Metachondromatosis (METCDS)
Identifiers:: MONDO: MONDO:0007979; MedGen: C0410530; Orphanet: 2499; OMIM: 156250

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003835319	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 2, 2022)	unknown	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

SCV003835319

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 2, 2022)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV003835319.1

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

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

Last Updated: Nov 24, 2024

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