NM_001754.5(RUNX1):c.205G>C (p.Gly69Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 28, 2022
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:: RCV003159131.1

Allele description [Variation Report for NM_001754.5(RUNX1):c.205G>C (p.Gly69Arg)]

NM_001754.5(RUNX1):c.205G>C (p.Gly69Arg)

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.205G>C (p.Gly69Arg)

HGVS:

NC_000021.9:g.34886989C>G
NG_011402.2:g.1102723G>C
NM_001001890.3:c.124G>C
NM_001122607.2:c.124G>C
NM_001754.5:c.205G>CMANE SELECT
NP_001001890.1:p.Gly42Arg
NP_001116079.1:p.Gly42Arg
NP_001745.2:p.Gly69Arg
NP_001745.2:p.Gly69Arg
LRG_482t1:c.205G>C
LRG_482:g.1102723G>C
LRG_482p1:p.Gly69Arg
NC_000021.8:g.36259286C>G
NM_001754.4:c.205G>C

Protein change:

G42R

Links:

dbSNP: rs777168865

NCBI 1000 Genomes Browser:

rs777168865

Molecular consequence:

NM_001001890.3:c.124G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001122607.2:c.124G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001754.5:c.205G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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CEL [Geotrypetes seraphini]
CEL [Geotrypetes seraphini]
Gene ID:117367925

Gene
XXT3 Galactosyl transferase GMA12/MNN10 family protein [Arabidopsis thaliana]
XXT3 Galactosyl transferase GMA12/MNN10 family protein [Arabidopsis thaliana]
Gene ID:830665

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003853075	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Sep 28, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003853075

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Sep 28, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV003853075.1

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies demonstrate no damaging effect (Harada et al., 2003; Koh et al., 2013); Observed in the germline of an individual with acute myeloid leukemia and no family history (Jeong et al., 2019); Also known as c.124C>G; p.G42R; This variant is associated with the following publications: (PMID: 35599145, 12393679, 23817177, 32956452, 31470354)

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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