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NM_172369.5(C1QC):c.424G>A (p.Ala142Thr) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 18, 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:
RCV004070792.1

Allele description [Variation Report for NM_172369.5(C1QC):c.424G>A (p.Ala142Thr)]

NM_172369.5(C1QC):c.424G>A (p.Ala142Thr)

Gene:
C1QC:complement C1q C chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.12
Genomic location:
Preferred name:
NM_172369.5(C1QC):c.424G>A (p.Ala142Thr)
HGVS:
  • NC_000001.11:g.22647469G>A
  • NG_007565.1:g.8845G>A
  • NM_001114101.3:c.424G>A
  • NM_001347619.2:c.424G>A
  • NM_001347620.2:c.157G>A
  • NM_172369.3:c.424G>A
  • NM_172369.5:c.424G>AMANE SELECT
  • NP_001107573.1:p.Ala142Thr
  • NP_001107573.1:p.Ala142Thr
  • NP_001334548.1:p.Ala142Thr
  • NP_001334549.1:p.Ala53Thr
  • NP_758957.2:p.Ala142Thr
  • NP_758957.2:p.Ala142Thr
  • LRG_24t1:c.424G>A
  • LRG_24t2:c.424G>A
  • LRG_24:g.8845G>A
  • LRG_24p1:p.Ala142Thr
  • LRG_24p2:p.Ala142Thr
  • NC_000001.10:g.22973962G>A
  • NM_001114101.1:c.424G>A
  • NM_172369.2:c.424G>A
Protein change:
A142T
Molecular consequence:
  • NM_001114101.3:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347619.2:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347620.2:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172369.5:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004917220Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 18, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004917220.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024