NM_000064.4(C3):c.1254G>T (p.Lys418Asn) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 17, 2024
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:: RCV005015935.1

Allele description [Variation Report for NM_000064.4(C3):c.1254G>T (p.Lys418Asn)]

NM_000064.4(C3):c.1254G>T (p.Lys418Asn)

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.1254G>T (p.Lys418Asn)

HGVS:

NC_000019.10:g.6712272C>A
NG_009557.1:g.13380G>T
NM_000064.4:c.1254G>TMANE SELECT
NP_000055.2:p.Lys418Asn
NP_000055.2:p.Lys418Asn
LRG_27t1:c.1254G>T
LRG_27:g.13380G>T
LRG_27p1:p.Lys418Asn
NC_000019.9:g.6712283C>A
NM_000064.2:c.1254G>T

Protein change:

K418N

Molecular consequence:

NM_000064.4:c.1254G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Age related macular degeneration 9
Identifiers:: MONDO: MONDO:0012659; MedGen: C1969651; OMIM: 611378

Name:: Atypical hemolytic-uremic syndrome with C3 anomaly
Synonyms:: AHUS, SUSCEPTIBILITY TO, 5; Atypical hemolytic-uremic syndrome 5
Identifiers:: MONDO: MONDO:0013043; MedGen: C2752037; Orphanet: 2134; OMIM: 612925

Name:: Complement component 3 deficiency
Synonyms:: Complement component 3 deficiency, autosomal recessive
Identifiers:: MONDO: MONDO:0013417; MedGen: C3151071; Orphanet: 280133; OMIM: 613779

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005649921	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 17, 2024)	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

SCV005649921

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 17, 2024)

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 Fulgent Genetics, Fulgent Genetics, SCV005649921.1

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

#	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: Feb 1, 2025

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