NM_172369.5(C1QC):c.19_20delinsAA (p.Ser7Asn) AND C1Q deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 11, 2018
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:: RCV000767906.1

Allele description [Variation Report for NM_172369.5(C1QC):c.19_20delinsAA (p.Ser7Asn)]

NM_172369.5(C1QC):c.19_20delinsAA (p.Ser7Asn)

Gene:

C1QC:complement C1q C chain [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

1p36.12

Genomic location:

Preferred name:

NM_172369.5(C1QC):c.19_20delinsAA (p.Ser7Asn)

HGVS:

NC_000001.11:g.22644042_22644043delinsAA
NG_007565.1:g.5418_5419delinsAA
NM_001114101.3:c.19_20delinsAA
NM_001347619.2:c.19_20delinsAA
NM_001347620.2:c.-87+328_-87+329delinsAA
NM_172369.5:c.19_20delinsAAMANE SELECT
NP_001107573.1:p.Ser7Asn
NP_001334548.1:p.Ser7Asn
NP_758957.2:p.Ser7Asn
LRG_24:g.5418_5419delinsAA
NC_000001.10:g.22970535_22970536delinsAA

Protein change:

S7N

Links:

dbSNP: rs1557603993

NCBI 1000 Genomes Browser:

rs1557603993

Molecular consequence:

NM_001347620.2:c.-87+328_-87+329delinsAA - intron variant - [Sequence Ontology: SO:0001627]
NM_001114101.3:c.19_20delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001347619.2:c.19_20delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_172369.5:c.19_20delinsAA - 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
SCV000898553	Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 11, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000898553

Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 11, 2018)

germline

clinical testing

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

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	clinical testing

Citations

PubMed

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 Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV000898553.1

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

Description

C1QC NM_001114101.2 exon 2 p.Ser7Asn (c.19_20delinsAA): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. This variant represents an in-frame deletion and insertion of 2 nucleotides, resulting in a single amino acid substitution at position 7 and is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

#	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: Sep 29, 2024

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