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NM_001142864.4(PIEZO1):c.2263G>T (p.Glu755Ter) AND Lymphatic malformation 6

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 20, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000208769.7

Allele description [Variation Report for NM_001142864.4(PIEZO1):c.2263G>T (p.Glu755Ter)]

NM_001142864.4(PIEZO1):c.2263G>T (p.Glu755Ter)

Genes:
HSALR1:HSP90AB1 associated lncRNA 1 [Gene - HGNC]
PIEZO1:piezo type mechanosensitive ion channel component 1 (Er blood group) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_001142864.4(PIEZO1):c.2263G>T (p.Glu755Ter)
HGVS:
  • NC_000016.10:g.88733972C>A
  • NG_042229.1:g.56249G>T
  • NM_001142864.4:c.2263G>TMANE SELECT
  • NP_001136336.2:p.Glu755Ter
  • LRG_1137t1:c.2263G>T
  • LRG_1137:g.56249G>T
  • LRG_1137p1:p.Glu755Ter
  • NC_000016.9:g.88800380C>A
Protein change:
E755*; GLU755TER
Links:
OMIM: 611184.0010; dbSNP: rs869025596
NCBI 1000 Genomes Browser:
rs869025596
Molecular consequence:
  • NM_001142864.4:c.2263G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000264619OMIM
no assertion criteria provided
Pathogenic
(Feb 20, 2024) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.

Fotiou E, Martin-Almedina S, Simpson MA, Lin S, Gordon K, Brice G, Atton G, Jeffery I, Rees DC, Mignot C, Vogt J, Homfray T, Snyder MP, Rockson SG, Jeffery S, Mortimer PS, Mansour S, Ostergaard P.

Nat Commun. 2015 Sep 3;6:8085. doi: 10.1038/ncomms9085. Erratum in: Nat Commun. 2019 Apr 26;10(1):1951. doi: 10.1038/s41467-019-09905-4.

PubMed [citation]
PMID:
26333996
PMCID:
PMC4568316

Details of each submission

From OMIM, SCV000264619.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 brothers (family GLD2) with lymphatic malformation-6 (LMPHM6; 616843), Fotiou et al. (2015) identified compound heterozygous mutations in the PIEZO1 gene: a c.2263G-T transversion (c.2263G-T, NM_001142864) in exon 17, resulting in a glu755-to-ter (E755X) substitution, and a c.6682C-T transition in exon 46, resulting in a gln2228-to-ter (Q2228X; 611184.0011) substitution. One of the brothers died in utero at 34 weeks' gestation. The mutations segregated with the disorder in the family and were not found in the dbSNP or 1000 Genomes Project databases or in 900 control samples. No full-sized PIEZO1 protein products were identified by Western blot analysis in 1 brother.

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

Last Updated: Mar 10, 2024