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

Variation ID: Help
223131
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
May 20, 2019
Number of submission(s):
1
Condition(s):
Lymphedema, hereditary, III[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

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

Allele ID:
224857
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
  • Chr16: 88717172 (on Assembly GRCh38)
  • Chr16: 88783580 (on Assembly GRCh37)
Protein change:
V2171F
HGVS:
  • NG_042229.1:g.73049G>T
  • NM_001142864.4:c.6511G>T
  • NP_001136336.2:p.Val2171Phe
  • NC_000016.10:g.88717172C>A (GRCh38)
  • LRG_1137t1:c.6511G>T
  • NC_000016.9:g.88783580C>A (GRCh37)
  • LRG_1137p1:p.Val2171Phe
  • LRG_1137:g.73049G>T
Links:
NCBI 1000 Genomes Browser:
rs370296725
Molecular consequence:
NM_001142864.4:c.6511G>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • The Genome Aggregation Database (gnomAD) 0.00003
  • The Genome Aggregation Database (gnomAD), exomes 0.00002
  • Trans-Omics for Precision Medicine (TOPMed) 0.00002

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(May 20, 2019)
no assertion criteria providedliterature onlygermlineOMIMSCV000264623.4
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 23, 2019

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