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NM_001378183.1(PIEZO2):c.3730G>A (p.Val1244Met) AND Arthrogryposis, distal, with impaired proprioception and touch

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 10, 2020
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:
RCV001265640.1

Allele description [Variation Report for NM_001378183.1(PIEZO2):c.3730G>A (p.Val1244Met)]

NM_001378183.1(PIEZO2):c.3730G>A (p.Val1244Met)

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.3730G>A (p.Val1244Met)
HGVS:
  • NC_000018.10:g.10759509C>T
  • NG_034005.1:g.394254G>A
  • NM_001378183.1:c.3730G>AMANE SELECT
  • NM_022068.4:c.3655G>A
  • NP_001365112.1:p.Val1244Met
  • NP_071351.2:p.Val1219Met
  • NP_071351.2:p.Val1219Met
  • NC_000018.9:g.10759507C>T
  • NM_022068.2:c.3655G>A
  • NM_022068.3:c.3655G>A
Protein change:
V1219M
Links:
dbSNP: rs73946020
NCBI 1000 Genomes Browser:
rs73946020
Molecular consequence:
  • NM_001378183.1:c.3730G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022068.4:c.3655G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001443802Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 10, 2020) 		maternalresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot provided1not providedresearch

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 Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics, SCV001443802.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024