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NM_001130004.2(ACTN1):c.2243T>A (p.Met748Lys) AND Platelet-type bleeding disorder 15

Germline classification:
Likely pathogenic (1 submission)
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:
RCV000824969.1

Allele description [Variation Report for NM_001130004.2(ACTN1):c.2243T>A (p.Met748Lys)]

NM_001130004.2(ACTN1):c.2243T>A (p.Met748Lys)

Gene:
ACTN1:actinin alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.1
Genomic location:
Preferred name:
NM_001130004.2(ACTN1):c.2243T>A (p.Met748Lys)
HGVS:
  • NC_000014.9:g.68879999A>T
  • NG_029480.1:g.104368T>A
  • NM_001102.4:c.2243T>A
  • NM_001130004.2:c.2243T>AMANE SELECT
  • NM_001130005.2:c.2243T>A
  • NP_001093.1:p.Met748Lys
  • NP_001123476.1:p.Met748Lys
  • NP_001123476.1:p.Met748Lys
  • NP_001123477.1:p.Met748Lys
  • LRG_886t1:c.2243T>A
  • LRG_886:g.104368T>A
  • LRG_886p1:p.Met748Lys
  • NC_000014.8:g.69346716A>T
  • NM_001130004.1:c.2243T>A
Protein change:
M748K
Links:
dbSNP: rs1594751659
NCBI 1000 Genomes Browser:
rs1594751659
Molecular consequence:
  • NM_001102.4:c.2243T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130004.2:c.2243T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130005.2:c.2243T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Platelet-type bleeding disorder 15 (BDPLT15)
Synonyms:
MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, ACTN1-RELATED
Identifiers:
MONDO: MONDO:0014078; MedGen: C3554663; Orphanet: 140957; OMIM: 615193

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000966145Hematology laboratory, Robert Debré Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Novel ACTN1 variants in cases of thrombocytopenia.

Vincenot A, Saultier P, Kunishima S, Poggi M, Hurtaud-Roux MF, Roussel A, Actn Study Coinvestigators, Schlegel N, Alessi MC.

Hum Mutat. 2019 Dec;40(12):2258-2269. doi: 10.1002/humu.23840. Epub 2019 Nov 6.

PubMed [citation]
PMID:
31237726
PMCID:
PMC6900141

Details of each submission

From Hematology laboratory, Robert Debré Hospital, SCV000966145.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: May 19, 2024