NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser) AND Lymphedema, hereditary, III

Clinical significance:Uncertain significance (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000989648.1

Allele description [Variation Report for NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser)]

NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser)

Genes:
PIEZO1:piezo type mechanosensitive ion channel component 1 [Gene - OMIM - HGNC]
LOC100289580:uncharacterized LOC100289580 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser)
HGVS:
  • NC_000016.10:g.88733731C>T
  • NG_042229.1:g.56490G>A
  • NM_001142864.4:c.2344G>AMANE SELECT
  • NP_001136336.2:p.Gly782Ser
  • LRG_1137t1:c.2344G>A
  • LRG_1137:g.56490G>A
  • LRG_1137p1:p.Gly782Ser
  • NC_000016.9:g.88800139C>T
  • NM_001142864.2:c.2344G>A
  • NM_001142864.3:c.2344G>A
  • Q92508:p.Gly782Ser
Protein change:
G782S
Links:
UniProtKB: Q92508#VAR_069823; OMIM: 611184.0008; dbSNP: rs200970763
NCBI 1000 Genomes Browser:
rs200970763
Molecular consequence:
  • NM_001142864.4:c.2344G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lymphedema, hereditary, III (LMPHM6)
Synonyms:
GENERALIZED LYMPHATIC DYSPLASIA OF FOTIOU; LYMPHATIC MALFORMATION 6
Identifiers:
MONDO: MONDO:0014797; MedGen: C4225184; OMIM: 616843

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001140179Mendelicscriteria provided, single submitter
Uncertain significance
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From Mendelics, SCV001140179.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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