NM_001142864.4(PIEZO1):c.2165C>T (p.Pro722Leu) AND Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 15, 2023
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:: RCV003155903.1

Allele description [Variation Report for NM_001142864.4(PIEZO1):c.2165C>T (p.Pro722Leu)]

NM_001142864.4(PIEZO1):c.2165C>T (p.Pro722Leu)

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.2165C>T (p.Pro722Leu)

Other names:

p.Pro722Leu

HGVS:

NC_000016.10:g.88734371G>A
NG_042229.1:g.55850C>T
NM_001142864.4:c.2165C>TMANE SELECT
NM_014745.1:c.710C>T
NP_001136336.2:p.Pro722Leu
NP_055560.1:p.Pro237Leu
LRG_1137t1:c.2165C>T
LRG_1137:g.55850C>T
LRG_1137p1:p.Pro722Leu
NC_000016.9:g.88800779G>A

Protein change:

P237L

Molecular consequence:

NM_001142864.4:c.2165C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_014745.1:c.710C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS1)
Synonyms:: PSEUDOHYPERKALEMIA EDINBURGH; DEHYDRATED HEREDITARY STOMATOCYTOSIS AND PSEUDOHYPERKALEMIA; DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008689; MedGen: C4551512; Orphanet: 3202; OMIM: 194380

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003844046	Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 15, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003844046

Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 15, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical 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 Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics, SCV003844046.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	PubMed (1)

Description

A heterozygous missense variant in Exon 16 of the PIEZO1 gene that results in the amino acid substitution of Leucine for Proline at codon 722 was detected . This variant has not been reported in the 1000 genomes, gnomAD and gnomdAD databases and has a minor allele frequency of 0.003% and 0.006% in the topmed and our internal databases respectively. The in silico predictions of the variant are. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 6, 2024

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