NM_001130004.1(ACTN1):c.[2156A>C;2157G>C] 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:: RCV000824968.3

Alleles description [Variation Report for NM_001130004.1(ACTN1):c.[2156A>C;2157G>C]]

NM_001130004.2(ACTN1):c.2157G>C (p.Gln719His)

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.2157G>C (p.Gln719His)

HGVS:

NC_000014.9:g.68880085C>G
NG_029480.1:g.104282G>C
NM_001102.4:c.2157G>C
NM_001130004.2:c.2157G>CMANE SELECT
NM_001130005.2:c.2157G>C
NP_001093.1:p.Gln719His
NP_001123476.1:p.Gln719His
NP_001123476.1:p.Gln719His
NP_001123477.1:p.Gln719His
LRG_886t1:c.2157G>C
LRG_886:g.104282G>C
LRG_886p1:p.Gln719His
NC_000014.8:g.69346802C>G
NM_001130004.1:c.2157G>C

Protein change:

Q719H

Links:

dbSNP: rs1594751825

NCBI 1000 Genomes Browser:

rs1594751825

Molecular consequence:

NM_001102.4:c.2157G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001130004.2:c.2157G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001130005.2:c.2157G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

NM_001130004.2(ACTN1):c.2156A>C (p.Gln719Pro)

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.2156A>C (p.Gln719Pro)

HGVS:

NC_000014.9:g.68880086T>G
NG_029480.1:g.104281A>C
NM_001102.4:c.2156A>C
NM_001130004.2:c.2156A>CMANE SELECT
NM_001130005.2:c.2156A>C
NP_001093.1:p.Gln719Pro
NP_001123476.1:p.Gln719Pro
NP_001123476.1:p.Gln719Pro
NP_001123477.1:p.Gln719Pro
LRG_886t1:c.2156A>C
LRG_886:g.104281A>C
LRG_886p1:p.Gln719Pro
NC_000014.8:g.69346803T>G
NM_001130004.1:c.2156A>C

Protein change:

Q719P

Links:

dbSNP: rs1594751831

NCBI 1000 Genomes Browser:

rs1594751831

Molecular consequence:

NM_001102.4:c.2156A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001130004.2:c.2156A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001130005.2:c.2156A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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

Recent activity

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Malassezia globosa CBS 7966 mgl_sf_2.1, whole genome shotgun sequence
Malassezia globosa CBS 7966 mgl_sf_2.1, whole genome shotgun sequence
gi|159105451|gb|AAYY01000003.1||gnl AAYY|mgl_sf_2.1

Nucleotide
Malassezia globosa CBS 7966 uncharacterized protein (MGL_0865), partial mRNA
Malassezia globosa CBS 7966 uncharacterized protein (MGL_0865), partial mRNA
gi|164660948|ref|XM_001731545.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000966144	Hematology laboratory, Robert Debré Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 31237726

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000966144

Hematology laboratory, Robert Debré Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical 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, SCV000966144.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (2)

#	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		2	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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