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NM_001142864.4(PIEZO1):c.2610G>A (p.Met870Ile) AND Non-immune hydrops fetalis

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 26, 2020
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:
RCV001376056.1

Allele description [Variation Report for NM_001142864.4(PIEZO1):c.2610G>A (p.Met870Ile)]

NM_001142864.4(PIEZO1):c.2610G>A (p.Met870Ile)

Genes:
HSALR1:HSP90AB1 associated lncRNA 1 [Gene - HGNC]
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.2610G>A (p.Met870Ile)
HGVS:
  • NC_000016.10:g.88733332C>T
  • NG_042229.1:g.56889G>A
  • NM_001142864.4:c.2610G>AMANE SELECT
  • NP_001136336.2:p.Met870Ile
  • LRG_1137t1:c.2610G>A
  • LRG_1137:g.56889G>A
  • LRG_1137p1:p.Met870Ile
  • NC_000016.9:g.88799740C>T
  • NM_001142864.2:c.2610G>A
Protein change:
M870I
Links:
dbSNP: rs1247870598
NCBI 1000 Genomes Browser:
rs1247870598
Molecular consequence:
  • NM_001142864.4:c.2610G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Non-immune hydrops fetalis (NIHF)
Synonyms:
Idiopathic hydrops fetalis; Familial non-immune hydrops fetalis; Fetal edema
Identifiers:
MONDO: MONDO:0009369; MedGen: C0455988; OMIM: 236750; Human Phenotype Ontology: HP:0001790

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001573073Genomic Medicine Lab, University of California San Francisco - CSER-P3EGS
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 26, 2020) 		maternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedclinical 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 Genomic Medicine Lab, University of California San Francisco - CSER-P3EGS, SCV001573073.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024