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NM_001378156.1(C1QB):c.623G>A (p.Gly208Asp) AND C1Q deficiency 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 29, 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:
RCV003225881.8

Allele description [Variation Report for NM_001378156.1(C1QB):c.623G>A (p.Gly208Asp)]

NM_001378156.1(C1QB):c.623G>A (p.Gly208Asp)

Gene:
C1QB:complement C1q B chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.12
Genomic location:
Preferred name:
NM_001378156.1(C1QB):c.623G>A (p.Gly208Asp)
HGVS:
  • NC_000001.11:g.22661253G>A
  • NG_007283.1:g.13065G>A
  • NM_000491.5:c.629G>A
  • NM_001371184.3:c.623G>A
  • NM_001378156.1:c.623G>AMANE SELECT
  • NP_000482.3:p.Gly210Asp
  • NP_000482.3:p.Gly210Asp
  • NP_001358113.2:p.Gly208Asp
  • NP_001365085.1:p.Gly208Asp
  • LRG_23t1:c.629G>A
  • LRG_23:g.13065G>A
  • LRG_23p1:p.Gly210Asp
  • NC_000001.10:g.22987746G>A
  • NM_000491.3:c.629G>A
Protein change:
G208D
Molecular consequence:
  • NM_000491.5:c.629G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371184.3:c.623G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378156.1:c.623G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
C1Q deficiency 2
Identifiers:
MONDO: MONDO:0958187; MedGen: C5830422; OMIM: 620321

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003808086Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 29, 2022) 		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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV003808086.2

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

Description

ACMG classification criteria: PM2 moderated

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

Last Updated: Nov 10, 2024