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NM_001142864.4(PIEZO1):c.6750G>A (p.Gln2250=) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 2, 2021
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:
RCV001811841.13

Allele description [Variation Report for NM_001142864.4(PIEZO1):c.6750G>A (p.Gln2250=)]

NM_001142864.4(PIEZO1):c.6750G>A (p.Gln2250=)

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.6750G>A (p.Gln2250=)
HGVS:
  • NC_000016.10:g.88716809C>T
  • NG_042229.1:g.73412G>A
  • NM_001142864.4:c.6750G>AMANE SELECT
  • NP_001136336.2:p.Gln2250=
  • LRG_1137t1:c.6750G>A
  • LRG_1137:g.73412G>A
  • LRG_1137p1:p.Gln2250=
  • NC_000016.9:g.88783217C>T
Links:
dbSNP: rs1190241831
NCBI 1000 Genomes Browser:
rs1190241831
Molecular consequence:
  • NM_001142864.4:c.6750G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002047968ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)		Likely benign
(Jul 2, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002047968.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024