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NM_015991.4(C1QA):c.11C>G (p.Pro4Arg) AND C1Q deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 28, 2019
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:
RCV002471205.1

Allele description [Variation Report for NM_015991.4(C1QA):c.11C>G (p.Pro4Arg)]

NM_015991.4(C1QA):c.11C>G (p.Pro4Arg)

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.11C>G (p.Pro4Arg)
HGVS:
  • NC_000001.11:g.22637627C>G
  • NG_007282.1:g.6003C>G
  • NM_001347465.2:c.11C>G
  • NM_001347466.2:c.11C>G
  • NM_015991.4:c.11C>GMANE SELECT
  • NP_001334394.1:p.Pro4Arg
  • NP_001334395.1:p.Pro4Arg
  • NP_057075.1:p.Pro4Arg
  • LRG_22t1:c.11C>G
  • LRG_22:g.6003C>G
  • NC_000001.10:g.22964120C>G
  • NM_015991.2:c.11C>G
Protein change:
P4R
Links:
dbSNP: rs149230484
NCBI 1000 Genomes Browser:
rs149230484
Molecular consequence:
  • NM_001347465.2:c.11C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347466.2:c.11C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015991.4:c.11C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002767740Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 28, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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 Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, SCV002767740.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

A heterozygous missense variant was identified, NM_015991.2(C1QA):c.11C>G in exon 2 of 3 of the C1QA gene. This substitution is predicted to create a major amino acid change from proline to arginine at position 4 of the protein, NP_057075.1(C1QA):p.(Pro4Arg). The proline at this position has low conservation (100 vertebrates, UCSC), and is located within the signal peptide motif. In silico software predictions of the pathogenicity of this variant are conflicting (Polyphen, SIFT, CADD, Mutation Taster). The variant is present in the gnomAD population database at a frequency of 0.02% (68 heterozygotes, 0 homozygotes). An alternative residue change to serine at the same location has been reported in the gnomAD database at a frequency of 0.0004% (1 heterozygote, 0 homozygotes). The variant has not previously been reported in clinical cases. Based on information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024