NM_001142864.4(PIEZO1):c.6511G>T (p.Val2171Phe) AND Lymphatic malformation 6

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 20, 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:: RCV000208749.7

Allele description [Variation Report for NM_001142864.4(PIEZO1):c.6511G>T (p.Val2171Phe)]

NM_001142864.4(PIEZO1):c.6511G>T (p.Val2171Phe)

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.6511G>T (p.Val2171Phe)

HGVS:

NC_000016.10:g.88717172C>A
NG_042229.1:g.73049G>T
NM_001142864.4:c.6511G>TMANE SELECT
NP_001136336.2:p.Val2171Phe
LRG_1137t1:c.6511G>T
LRG_1137:g.73049G>T
LRG_1137p1:p.Val2171Phe
NC_000016.9:g.88783580C>A

Protein change:

V2171F; VAL2171PHE

Links:

OMIM: 611184.0013; dbSNP: rs370296725

NCBI 1000 Genomes Browser:

rs370296725

Molecular consequence:

NM_001142864.4:c.6511G>T - 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
SCV000264623	OMIM	no assertion criteria provided	Pathogenic (Feb 20, 2024)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000264623

OMIM

no assertion criteria provided

Pathogenic
(Feb 20, 2024)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.

Fotiou E, Martin-Almedina S, Simpson MA, Lin S, Gordon K, Brice G, Atton G, Jeffery I, Rees DC, Mignot C, Vogt J, Homfray T, Snyder MP, Rockson SG, Jeffery S, Mortimer PS, Mansour S, Ostergaard P.

Nat Commun. 2015 Sep 3;6:8085. doi: 10.1038/ncomms9085. Erratum in: Nat Commun. 2019 Apr 26;10(1):1951.

PubMed [citation]

PMID:: 26333996
PMCID:: PMC4568316

Details of each submission

From OMIM, SCV000264623.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the c.6511G-T transversion (c.6511G-T, NM_001142864) in the PIEZO1 gene, resulting in a val2171-to-phe (V2171F) substitution, that was found in compound heterozygous state in a patient with lymphatic malformation-6 (LMPHM6; 616843), by Fotiou et al. (2015), see 611184.0012.

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

Last Updated: Mar 10, 2024

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