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NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys) AND Blood group, ER

Germline classification:
Affects (1 submission)
Last evaluated:
Jan 26, 2023
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:
RCV003152632.1

Allele description [Variation Report for NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys)]

NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys)

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.7174G>A (p.Glu2392Lys)
Other names:
PIEZO1, GLU2392LYS (rs528448732)
HGVS:
  • NC_000016.10:g.88716075C>T
  • NG_042229.1:g.74146G>A
  • NM_001142864.4:c.7174G>AMANE SELECT
  • NP_001136336.2:p.Glu2392Lys
  • LRG_1137t1:c.7174G>A
  • LRG_1137:g.74146G>A
  • LRG_1137p1:p.Glu2392Lys
  • NC_000016.9:g.88782483C>T
  • NM_001142864.2:c.7174G>A
  • NM_001142864.3:c.7174G>A
  • p.Glu2392Lys
Protein change:
E2392K; GLU2392LYS
Links:
OMIM: 611184.0018; dbSNP: rs528448732
NCBI 1000 Genomes Browser:
rs528448732
Molecular consequence:
  • NM_001142864.4:c.7174G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Blood group, ER (ER)
Synonyms:
ER BLOOD GROUP SYSTEM
Identifiers:
MedGen: C5703066; OMIM: 620207

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003841036OMIM
no assertion criteria provided
Affects
(Jan 26, 2023) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Missense mutations in PIEZO1, which encodes the Piezo1 mechanosensor protein, define Er red blood cell antigens.

Karamatic Crew V, Tilley LA, Satchwell TJ, AlSubhi SA, Jones B, Spring FA, Walser PJ, Martins Freire C, Murciano N, Rotordam MG, Woestmann SJ, Hamed M, Alradwan R, AlKhrousey M, Skidmore I, Lewis S, Hussain S, Jackson J, Latham T, Kilby MD, Lester W, Becker N, et al.

Blood. 2023 Jan 12;141(2):135-146. doi: 10.1182/blood.2022016504.

PubMed [citation]
PMID:
36122374
PMCID:
PMC10644042

Details of each submission

From OMIM, SCV003841036.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the c.7174G-A transition (c.7174G-A, NM_001142864.4) in the PIEZO1 gene, resulting in a glu2392-to-lys (E2392K) substitution, that was found in compound heterozygous state in a patient (P2) with an Er(a-b+) red blood cell phenotype in the Er system (ER; 620207) by Karamatic Crew et al. (2023), see 611184.0017.

For discussion of the E2392K mutation that was found in compound heterozygous state in a patient (P10) with an Er(a-b-) red blood cell phenotype, see 611184.0019.

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

Last Updated: May 19, 2024