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NM_001135254.2(PAX7):c.335C>T (p.Pro112Leu) AND Alveolar rhabdomyosarcoma

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 17, 2018
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:
RCV001294113.9

Allele description [Variation Report for NM_001135254.2(PAX7):c.335C>T (p.Pro112Leu)]

NM_001135254.2(PAX7):c.335C>T (p.Pro112Leu)

Gene:
PAX7:paired box 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_001135254.2(PAX7):c.335C>T (p.Pro112Leu)
HGVS:
  • NC_000001.11:g.18635124C>T
  • NG_023262.1:g.9119C>T
  • NM_001135254.2:c.335C>TMANE SELECT
  • NM_002584.2:c.335C>T
  • NM_002584.3:c.335C>T
  • NM_013945.3:c.335C>T
  • NP_001128726.1:p.Pro112Leu
  • NP_002575.1:p.Pro112Leu
  • NP_039236.1:p.Pro112Leu
  • NC_000001.10:g.18961618C>T
  • NM_013945.2:c.335C>T
Protein change:
P112L
Links:
dbSNP: rs142754204
NCBI 1000 Genomes Browser:
rs142754204
Molecular consequence:
  • NM_001135254.2:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002584.3:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013945.3:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Alveolar rhabdomyosarcoma (RMS2)
Synonyms:
RHABDOMYOSARCOMA 2; Alveolar rhabdomyosarcoma (disease)
Identifiers:
MONDO: MONDO:0009994; MedGen: C0206655; Orphanet: 780; OMIM: 268220; Human Phenotype Ontology: HP:0006779

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001482927Baylor Genetics - CSER-TexasKidsCanSeq
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 17, 2018) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical 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 - CSER-TexasKidsCanSeq, SCV001482927.1

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

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Nov 3, 2024