NM_001142864.4(PIEZO1):c.6280C>T (p.Leu2094Phe) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 12, 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:: RCV004590288.1

Allele description [Variation Report for NM_001142864.4(PIEZO1):c.6280C>T (p.Leu2094Phe)]

NM_001142864.4(PIEZO1):c.6280C>T (p.Leu2094Phe)

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.6280C>T (p.Leu2094Phe)

HGVS:

NC_000016.10:g.88719845G>A
NG_042229.1:g.70376C>T
NM_001142864.4:c.6280C>TMANE SELECT
NP_001136336.2:p.Leu2094Phe
LRG_1137t1:c.6280C>T
LRG_1137:g.70376C>T
LRG_1137p1:p.Leu2094Phe
NC_000016.9:g.88786253G>A
NM_001142864.2:c.6280C>T

Protein change:

L2094F

Links:

dbSNP: rs1027478327

NCBI 1000 Genomes Browser:

rs1027478327

Molecular consequence:

NM_001142864.4:c.6280C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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
SCV005079494	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 12, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005079494

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 12, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV005079494.1

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	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		not provided	not provided	not provided	not provided

Last Updated: Jul 23, 2024

ClinVar

Relating variation to medicine