NM_001142864.4(PIEZO1):c.4885G>A (p.Gly1629Arg) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 16, 2019
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:: RCV001257389.1

Allele description [Variation Report for NM_001142864.4(PIEZO1):c.4885G>A (p.Gly1629Arg)]

NM_001142864.4(PIEZO1):c.4885G>A (p.Gly1629Arg)

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.4885G>A (p.Gly1629Arg)

HGVS:

NC_000016.10:g.88722288C>T
NG_042229.1:g.67933G>A
NM_001142864.4:c.4885G>AMANE SELECT
NP_001136336.2:p.Gly1629Arg
LRG_1137t1:c.4885G>A
LRG_1137:g.67933G>A
LRG_1137p1:p.Gly1629Arg
NC_000016.9:g.88788696C>T
NM_001142864.2:c.4885G>A

Protein change:

G1629R

Links:

dbSNP: rs533910472

NCBI 1000 Genomes Browser:

rs533910472

Molecular consequence:

NM_001142864.4:c.4885G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Polyhydramnios
Synonyms:: Polyhydramnios (disease)
Identifiers:: MONDO: MONDO:0004585; MedGen: C0020224; Human Phenotype Ontology: HP:0001561

Name:: Thickened nuchal skin fold
Identifiers:: MedGen: C1836940; Human Phenotype Ontology: HP:0000474

Name:: Hydrops fetalis
Identifiers:: MONDO: MONDO:0015193; MedGen: C0020305; Human Phenotype Ontology: HP:0001789

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001433917	Center for Reproductive Medicine, Peking University Third Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 16, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 30244526, 25741868, 31680349

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001433917

Center for Reproductive Medicine, Peking University Third Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 16, 2019)

germline

clinical testing

PubMed (3)
[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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis.

Datkhaeva I, Arboleda VA, Senaratne TN, Nikpour G, Meyerson C, Geng Y, Afshar Y, Scibetta E, Goldstein J, Quintero-Rivera F, Crandall BF, Grody WW, Deignan J, Janzen C.

Am J Med Genet A. 2018 Dec;176(12):2829-2834. doi: 10.1002/ajmg.a.40533. Epub 2018 Sep 23. Review.

PubMed [citation]

PMID:: 30244526

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

See all PubMed Citations (3)

Details of each submission

From Center for Reproductive Medicine, Peking University Third Hospital, SCV001433917.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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: Sep 29, 2024

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