NM_001142864.4(PIEZO1):c.6674T>G (p.Met2225Arg) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 24, 2024
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:: RCV004791250.1

Allele description [Variation Report for NM_001142864.4(PIEZO1):c.6674T>G (p.Met2225Arg)]

NM_001142864.4(PIEZO1):c.6674T>G (p.Met2225Arg)

Gene:

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.6674T>G (p.Met2225Arg)

HGVS:

NC_000016.10:g.88716885A>C
NG_042229.1:g.73336T>G
NM_001142864.4:c.6674T>GMANE SELECT
NP_001136336.2:p.Met2225Arg
LRG_1137t1:c.6674T>G
LRG_1137:g.73336T>G
LRG_1137p1:p.Met2225Arg
NC_000016.9:g.88783293A>C
NM_001142864.2:c.6674T>G
Q92508:p.Met2225Arg

Protein change:

M2225R; MET2225ARG

Links:

UniProtKB: Q92508#VAR_069832; OMIM: 611184.0001; dbSNP: rs587776987

NCBI 1000 Genomes Browser:

rs587776987

Molecular consequence:

NM_001142864.4:c.6674T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005413155	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 24, 2024)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 22529292, 23487776, 23695678, 28716860, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005413155

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 24, 2024)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.

Zarychanski R, Schulz VP, Houston BL, Maksimova Y, Houston DS, Smith B, Rinehart J, Gallagher PG.

Blood. 2012 Aug 30;120(9):1908-15. doi: 10.1182/blood-2012-04-422253. Epub 2012 Apr 23.

PubMed [citation]

PMID:: 22529292
PMCID:: PMC3448561

Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1.

Bae C, Gnanasambandam R, Nicolai C, Sachs F, Gottlieb PA.

Proc Natl Acad Sci U S A. 2013 Mar 19;110(12):E1162-8. doi: 10.1073/pnas.1219777110. Epub 2013 Mar 4.

PubMed [citation]

PMID:: 23487776
PMCID:: PMC3606986

See all PubMed Citations (5)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV005413155.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (5)

Description

PP1_moderate, PM2, PS3, PS4_moderate

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

Last Updated: Nov 30, 2024

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