NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile) AND Lymphatic malformation 6

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 26, 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:: RCV003458219.1

Allele description [Variation Report for NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile)]

NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile)

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.6154G>A (p.Val2052Ile)

HGVS:

NC_000016.10:g.88720079C>T
NG_042229.1:g.70142G>A
NM_001142864.4:c.6154G>AMANE SELECT
NP_001136336.2:p.Val2052Ile
LRG_1137t1:c.6154G>A
LRG_1137:g.70142G>A
LRG_1137p1:p.Val2052Ile
NC_000016.9:g.88786487C>T
NM_001142864.2:c.6154G>A
p.Val2052Ile

Protein change:

V2052I

Links:

dbSNP: rs564395221

NCBI 1000 Genomes Browser:

rs564395221

Molecular consequence:

NM_001142864.4:c.6154G>A - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004177214	Clinical Genomics Laboratory, Washington University in St. Louis	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 26, 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

SCV004177214

Clinical Genomics Laboratory, Washington University in St. Louis

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 26, 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	unknown	not provided	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 Clinical Genomics Laboratory, Washington University in St. Louis, SCV004177214.1

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

Description

The PIEZO1 c.6154G>A (p.Val2052Ile) variant was identified at a near heterozygous allelic fraction. The PIEZO1 c.6154G>A (p.Val2052Ile) variant, to our knowledge, has not been reported in the medical literature. This variant has been reported as a variant of uncertain significance by three submitters and a likely benign variant by one submitter (ClinVar variation ID: 811975). Computational predictors are uncertain as to the impact of this variant on PIEZO1 function. Due to limited information and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

#	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: Sep 29, 2024

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Relating variation to medicine