NM_001142864.4(PIEZO1):c.2991+12A>G AND not specified

Germline classification:: Benign (1 submission)
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:: RCV001700731.10

Allele description [Variation Report for NM_001142864.4(PIEZO1):c.2991+12A>G]

NM_001142864.4(PIEZO1):c.2991+12A>G

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.2991+12A>G

HGVS:

NC_000016.10:g.88732323T>C
NG_042229.1:g.57898A>G
NM_001142864.4:c.2991+12A>GMANE SELECT
LRG_1137t1:c.2991+12A>G
LRG_1137:g.57898A>G
NC_000016.9:g.88798731T>C

Links:

dbSNP: rs112680298

NCBI 1000 Genomes Browser:

rs112680298

Molecular consequence:

NM_001142864.4:c.2991+12A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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envelope glycoprotein, partial [Human immunodeficiency virus 1]
envelope glycoprotein, partial [Human immunodeficiency virus 1]
gi|262069693|gb|ACY08334.1|

Protein
Cecropterus bathyllus voucher NVG-4539
Cecropterus bathyllus voucher NVG-4539

biosample
Mesorhizobium sp. strain RMCC ML3261 recombinase A (recA) gene, partial cds
Mesorhizobium sp. strain RMCC ML3261 recombinase A (recA) gene, partial cds
gi|2572567352|gb|OM735922.1|

Nucleotide
Bedotia marojejy cytochrome b (CytB) gene, partial cds; mitochondrial
Bedotia marojejy cytochrome b (CytB) gene, partial cds; mitochondrial
gi|810059746|gb|KM400722.1|

Nucleotide
uncharacterized protein LOC111777016 [Cucurbita pepo subsp. pepo]
uncharacterized protein LOC111777016 [Cucurbita pepo subsp. pepo]
gi|1333161858|ref|XP_023512225.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001917730	Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001917730

Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Benign

germline

clinical testing

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

Details of each submission

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001917730.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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: Oct 26, 2024

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