NM_001129820.2(SLFN14):c.652A>G (p.Lys218Glu) AND Platelet-type bleeding disorder 20

Germline classification:: Likely pathogenic (3 submissions)
Last evaluated:: May 5, 2021
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:: RCV000210920.8

Allele description [Variation Report for NM_001129820.2(SLFN14):c.652A>G (p.Lys218Glu)]

NM_001129820.2(SLFN14):c.652A>G (p.Lys218Glu)

Gene:

SLFN14:schlafen family member 14 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_001129820.2(SLFN14):c.652A>G (p.Lys218Glu)

HGVS:

NC_000017.11:g.35557411T>C
NG_051181.1:g.8431A>G
NM_001129820.2:c.652A>GMANE SELECT
NP_001123292.1:p.Lys218Glu
NP_001123292.1:p.Lys218Glu
LRG_1114t1:c.652A>G
LRG_1114:g.8431A>G
LRG_1114p1:p.Lys218Glu
NC_000017.10:g.33884430T>C
NM_001129820.1:c.652A>G
NM_001129820.2:c.652A>G
P0C7P3:p.Lys218Glu

Protein change:

K218E; LYS218GLU

Links:

UniProtKB: P0C7P3#VAR_075786; OMIM: 614958.0003; dbSNP: rs869320716

NCBI 1000 Genomes Browser:

rs869320716

Molecular consequence:

NM_001129820.2:c.652A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Platelet-type bleeding disorder 20 (BDPLT20)
Identifiers:: MONDO: MONDO:0014830; MedGen: C4310797; OMIM: 616913

Recent activity

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Programmed Death 1 antibody effect on pathogenic Simian Immunodeficiency Virus i...
Programmed Death 1 antibody effect on pathogenic Simian Immunodeficiency Virus infection: peripheral blood mononuclear cells
Accession: GDS4235

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000267588	OMIM	no assertion criteria provided	Pathogenic (Nov 2, 2023)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV002023586	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 5, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002515745	ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	no assertion criteria provided	Uncertain significance	unknown	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000267588

OMIM

no assertion criteria provided

Pathogenic
(Nov 2, 2023)

germline

literature only

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

SCV002023586

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 5, 2021)

germline

clinical testing

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

SCV002515745

ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

no assertion criteria provided

Uncertain significance

unknown

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.

Fletcher SJ, Johnson B, Lowe GC, Bem D, Drake S, Lordkipanidzé M, Guiú IS, Dawood B, Rivera J, Simpson MA, Daly ME, Motwani J, Collins PW, Watson SP, Morgan NV; UK Genotyping and Phenotyping of Platelets study group..

J Clin Invest. 2015 Sep;125(9):3600-5. doi: 10.1172/JCI80347. Epub 2015 Aug 17.

PubMed [citation]

PMID:: 26280575
PMCID:: PMC4588283

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

Details of each submission

From OMIM, SCV000267588.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 3-year-old boy with platelet-type bleeding disorder-20 (BDPLT20; 616913), Fletcher et al. (2015) identified a heterozygous c.652A-G transition (c.652A-G, NM_001129820) in the SLFN14 gene, resulting in a lys218-to-glu (K218E) substitution in the ATPase-AAA-4 domain. The mutation was not found in the dbSNP (build 138) or ExAC databases. Patient cells showed decreased levels of SLFN14 protein to about 19% of control values.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV002023586.3

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002515745.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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