NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu) AND not provided

Germline classification:: Likely benign (5 submissions)
Last evaluated:: May 1, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000553096.24

Allele description [Variation Report for NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)]

NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)

Gene:

C19orf12:chromosome 19 open reading frame 12 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q12

Genomic location:

Preferred name:

NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)

Other names:

C19ORF12, LYS142GLU

HGVS:

NC_000019.10:g.29702747T>C
NG_031970.2:g.18043A>G
NM_001031726.4:c.391A>G
NM_001256046.3:c.*12A>G
NM_001256047.2:c.391A>G
NM_001282929.1:c.199A>G
NM_001282930.3:c.199A>G
NM_001282931.3:c.199A>G
NM_031448.6:c.391A>GMANE SELECT
NP_001026896.2:p.Lys142Glu
NP_001026896.3:p.Lys131Glu
NP_001242976.1:p.Lys131Glu
NP_001269858.1:p.Lys67Glu
NP_001269859.1:p.Lys67Glu
NP_001269860.1:p.Lys67Glu
NP_113636.2:p.Lys131Glu
NC_000019.9:g.30193654T>C
NM_001031726.2:c.424A>G
NM_001031726.3:c.424A>G

Protein change:

K131E; LYS142GLU

Links:

OMIM: 614297.0004; dbSNP: rs146170087

NCBI 1000 Genomes Browser:

rs146170087

Molecular consequence:

NM_001256046.3:c.*12A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001031726.4:c.391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001256047.2:c.391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282929.1:c.199A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282930.3:c.199A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282931.3:c.199A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_031448.6:c.391A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001151760	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (May 1, 2023)	germline	clinical testing	Citation Link,
SCV001743246	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001803233	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jan 25, 2021)	germline	clinical testing	Citation Link,
SCV001931725	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001973835	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	5	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001151760.21

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	not provided	not provided	clinical testing	not provided

Description

C19orf12: PM3, PM2:Supporting, BP4, BS2

#	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		5	not provided	not provided	not provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001743246.3

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

#	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

From GeneDx, SCV001803233.1

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

Description

This variant is associated with the following publications: (PMID: 30088953, 21981780, 25592411)

#	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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001931725.1

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

#	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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001973835.1

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

#	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: Apr 15, 2024

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