NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp) AND PIEZO1-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 23, 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:: RCV003953632.2

Allele description [Variation Report for NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp)]

NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp)

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.7471C>T (p.Arg2491Trp)

HGVS:

NC_000016.10:g.88715700G>A
NG_042229.1:g.74521C>T
NM_001142864.4:c.7471C>TMANE SELECT
NP_001136336.2:p.Arg2491Trp
LRG_1137t1:c.7471C>T
LRG_1137:g.74521C>T
LRG_1137p1:p.Arg2491Trp
NC_000016.9:g.88782108G>A
NM_001142864.2:c.7471C>T
NM_001142864.3:c.7471C>T
p.Arg2491Trp

Protein change:

R2491W

Links:

dbSNP: rs201746476

NCBI 1000 Genomes Browser:

rs201746476

Molecular consequence:

NM_001142864.4:c.7471C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: PIEZO1-related disorder
Synonyms:: PIEZO1-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004777461	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Uncertain significance (Jan 23, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004777461

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Uncertain significance
(Jan 23, 2024)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004777461.2

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

Description

The PIEZO1 c.7471C>T variant is predicted to result in the amino acid substitution p.Arg2491Trp. This variant has been reported in an individual with hereditary xerocytosis (Picard et al 2019. PubMed ID: 30655378). This variant is reported in 0.062% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#	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		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

ClinVar

Relating variation to medicine