NM_001735.3(C5):c.1711C>G (p.Leu571Val) AND Complement component 5 deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 15, 2017
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:: RCV000660630.5

Allele description [Variation Report for NM_001735.3(C5):c.1711C>G (p.Leu571Val)]

NM_001735.3(C5):c.1711C>G (p.Leu571Val)

Gene:

C5:complement C5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.2

Genomic location:

Preferred name:

NM_001735.3(C5):c.1711C>G (p.Leu571Val)

HGVS:

NC_000009.12:g.121017648G>C
NG_007364.1:g.37629C>G
NM_001317163.2:c.1729C>G
NM_001317164.2:c.1711C>G
NM_001735.3:c.1711C>GMANE SELECT
NP_001304092.1:p.Leu577Val
NP_001304093.1:p.Leu571Val
NP_001726.2:p.Leu571Val
NP_001726.2:p.Leu571Val
LRG_28t1:c.1711C>G
LRG_28:g.37629C>G
LRG_28p1:p.Leu571Val
NC_000009.11:g.123779926G>C
NM_001735.2:c.1711C>G

Protein change:

L571V

Links:

dbSNP: rs147226792

NCBI 1000 Genomes Browser:

rs147226792

Molecular consequence:

NM_001317163.2:c.1729C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001317164.2:c.1711C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001735.3:c.1711C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Complement component 5 deficiency
Synonyms:: Leiner disease; C5 deficiency; Dysfunction of the fifth component of complement (C5)
Identifiers:: MONDO: MONDO:0012295; MedGen: C0343047; OMIM: 609536

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000782752	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 15, 2017)	maternal	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

SCV000782752

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 15, 2017)

maternal

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	maternal	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 Mayo Clinic Laboratories, Mayo Clinic, SCV000782752.1

#	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	maternal	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

ClinVar

Relating variation to medicine