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NM_001378183.1(PIEZO2):c.1379-47T>C AND Arthrogryposis, distal, with impaired proprioception and touch

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 5, 2021
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:
RCV001788793.2

Allele description [Variation Report for NM_001378183.1(PIEZO2):c.1379-47T>C]

NM_001378183.1(PIEZO2):c.1379-47T>C

Gene:
PIEZO2:piezo type mechanosensitive ion channel component 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18p11.22
Genomic location:
Preferred name:
NM_001378183.1(PIEZO2):c.1379-47T>C
HGVS:
  • NC_000018.10:g.10797569A>G
  • NG_034005.1:g.356194T>C
  • NM_001378183.1:c.1379-47T>CMANE SELECT
  • NM_022068.4:c.1379-47T>C
  • NC_000018.9:g.10797567A>G
Links:
dbSNP: rs56112279
NCBI 1000 Genomes Browser:
rs56112279
Molecular consequence:
  • NM_001378183.1:c.1379-47T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022068.4:c.1379-47T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Arthrogryposis, distal, with impaired proprioception and touch (DAIPT)
Identifiers:
MONDO: MONDO:0014941; MedGen: C4310692; OMIM: 617146

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002029844Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Sep 5, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV002029844.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024