U.S. flag

An official website of the United States government

NM_000064.4(C3):c.3667C>T (p.Pro1223Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 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:
RCV002592997.2

Allele description [Variation Report for NM_000064.4(C3):c.3667C>T (p.Pro1223Ser)]

NM_000064.4(C3):c.3667C>T (p.Pro1223Ser)

Gene:
C3:complement C3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_000064.4(C3):c.3667C>T (p.Pro1223Ser)
HGVS:
  • NC_000019.10:g.6686267G>A
  • NG_009557.1:g.39385C>T
  • NM_000064.4:c.3667C>TMANE SELECT
  • NP_000055.2:p.Pro1223Ser
  • NP_000055.2:p.Pro1223Ser
  • LRG_27t1:c.3667C>T
  • LRG_27:g.39385C>T
  • LRG_27p1:p.Pro1223Ser
  • NC_000019.9:g.6686278G>A
  • NM_000064.2:c.3667C>T
Protein change:
P1223S
Molecular consequence:
  • NM_000064.4:c.3667C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003745401Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 29, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003745401.2

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

Description

The c.3667C>T (p.P1223S) alteration is located in exon 29 (coding exon 29) of the C3 gene. This alteration results from a C to T substitution at nucleotide position 3667, causing the proline (P) at amino acid position 1223 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024