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NM_001142864.4(PIEZO1):c.2731G>A (p.Val911Met) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 1, 2022
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:
RCV003101295.2

Allele description [Variation Report for NM_001142864.4(PIEZO1):c.2731G>A (p.Val911Met)]

NM_001142864.4(PIEZO1):c.2731G>A (p.Val911Met)

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.2731G>A (p.Val911Met)
HGVS:
  • NC_000016.10:g.88732666C>T
  • NG_042229.1:g.57555G>A
  • NM_001142864.2:c.2731G>A
  • NM_001142864.4:c.2731G>AMANE SELECT
  • NP_001136336.2:p.Val911Met
  • LRG_1137t1:c.2731G>A
  • LRG_1137:g.57555G>A
  • LRG_1137p1:p.Val911Met
  • NC_000016.9:g.88799074C>T
  • NM_001142864.4:c.2731G>A
Protein change:
V911M
Links:
dbSNP: rs554899632
NCBI 1000 Genomes Browser:
rs554899632
Molecular consequence:
  • NM_001142864.4:c.2731G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003730844Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 1, 2022) 		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 Ambry Genetics, SCV003730844.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.2731G>A (p.V911M) alteration is located in exon 20 (coding exon 20) of the PIEZO1 gene. This alteration results from a G to A substitution at nucleotide position 2731, causing the valine (V) at amino acid position 911 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024