NM_015991.4(C1QA):c.67G>A (p.Glu23Lys) AND C1Q deficiency

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Jul 25, 2016
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:: RCV000625107.2

Allele description [Variation Report for NM_015991.4(C1QA):c.67G>A (p.Glu23Lys)]

NM_015991.4(C1QA):c.67G>A (p.Glu23Lys)

Gene:

C1QA:complement C1q A chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.12

Genomic location:

Preferred name:

NM_015991.4(C1QA):c.67G>A (p.Glu23Lys)

HGVS:

NC_000001.11:g.22637683G>A
NG_007282.1:g.6059G>A
NM_001347465.2:c.67G>A
NM_001347466.2:c.67G>A
NM_015991.3:c.67G>A
NM_015991.4:c.67G>AMANE SELECT
NP_001334394.1:p.Glu23Lys
NP_001334395.1:p.Glu23Lys
NP_057075.1:p.Glu23Lys
LRG_22t1:c.67G>A
LRG_22:g.6059G>A
NC_000001.10:g.22964176G>A
NM_015991.2:c.67G>A

Protein change:

E23K

Links:

dbSNP: rs17887074

NCBI 1000 Genomes Browser:

rs17887074

Molecular consequence:

NM_001347465.2:c.67G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001347466.2:c.67G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015991.4:c.67G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: C1Q deficiency
Identifiers:: MONDO: MONDO:0013343; MedGen: C3150902; OMIM: PS613652

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000743794	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus	criteria provided, single submitter (ACGS Guidelines, 2013)	Likely benign (Oct 9, 2014)	germline	clinical testing	Citation Link,
SCV000745209	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus	criteria provided, single submitter (ACGS Guidelines, 2013)	Likely benign (Jul 25, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000743794

Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

criteria provided, single submitter

(ACGS Guidelines, 2013)

Likely benign
(Oct 9, 2014)

germline

clinical testing

Citation Link,

SCV000745209

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

criteria provided, single submitter

(ACGS Guidelines, 2013)

Likely benign
(Jul 25, 2016)

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 Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV000743794.1

#	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, SCV000745209.1

#	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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