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NM_001142864.4(PIEZO1):c.2932G>C (p.Asp978His) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 5, 2023
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:
RCV003272495.2

Allele description [Variation Report for NM_001142864.4(PIEZO1):c.2932G>C (p.Asp978His)]

NM_001142864.4(PIEZO1):c.2932G>C (p.Asp978His)

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.2932G>C (p.Asp978His)
HGVS:
  • NC_000016.10:g.88732394C>G
  • NG_042229.1:g.57827G>C
  • NM_001142864.4:c.2932G>CMANE SELECT
  • NM_014745.1:c.1474G>C
  • NP_001136336.2:p.Asp978His
  • NP_055560.1:p.Asp492His
  • LRG_1137t1:c.2932G>C
  • LRG_1137:g.57827G>C
  • LRG_1137p1:p.Asp978His
  • NC_000016.9:g.88798802C>G
  • NM_001142864.2:c.2932G>C
Protein change:
D492H
Molecular consequence:
  • NM_001142864.4:c.2932G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014745.1:c.1474G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003982421Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 5, 2023) 		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, SCV003982421.2

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

Description

The c.2932G>C (p.D978H) alteration is located in exon 21 (coding exon 21) of the PIEZO1 gene. This alteration results from a G to C substitution at nucleotide position 2932, causing the aspartic acid (D) at amino acid position 978 to be replaced by a histidine (H). 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: May 1, 2024