NM_001754.5(RUNX1):c.*2285A>C AND Hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Germline classification:: Benign (1 submission)
Last evaluated:: May 13, 2020
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV001195659.1

Allele description [Variation Report for NM_001754.5(RUNX1):c.*2285A>C]

NM_001754.5(RUNX1):c.*2285A>C

Gene:

RUNX1:RUNX family transcription factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.12

Genomic location:

Preferred name:

NM_001754.5(RUNX1):c.*2285A>C

HGVS:

NC_000021.9:g.34789850T>G
NG_011402.2:g.1199862A>C
NM_001001890.3:c.*2285A>C
NM_001754.5:c.*2285A>CMANE SELECT
LRG_482t1:c.*2285A>C
LRG_482:g.1199862A>C
NC_000021.8:g.36162147T>G
NM_001754.4(RUNX1):c.*2285A>C
NM_001754.4:c.*2285A>C

Links:

dbSNP: rs75749444

NCBI 1000 Genomes Browser:

rs75749444

Molecular consequence:

NM_001001890.3:c.*2285A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001754.5:c.*2285A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Identifiers:: MONDO: MONDO:0011071; MedGen: CN281654

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001366055	ClinGen Myeloid Malignancy Variant Curation Expert Panel	reviewed by expert panel (ClinGen MyeloMalig ACMG Specifications v1)	Benign (May 13, 2020)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001366055

ClinGen Myeloid Malignancy Variant Curation Expert Panel

reviewed by expert panel

(ClinGen MyeloMalig ACMG Specifications v1)

Benign
(May 13, 2020)

germline

curation

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation

Details of each submission

From ClinGen Myeloid Malignancy Variant Curation Expert Panel, SCV001366055.1

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

Description

The NM_001754.4:c.*2285A>C variant in the 3' UTR has an MAF of 0.1077 (10.8%; 937/8698 alleles) in the African subpopulation of the gnomAD v2.1.1 cohort and is >= 0.0015 (0.15%) (BA1). This variant is detected in a homozygous state in 212 individuals in the gnomAD v3 population database (BP2). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BA1, BP2.

#	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

Last Updated: Dec 24, 2023

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