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NM_030787.4(CFHR5):c.826G>A (p.Glu276Lys) AND CFHR5 deficiency

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 11, 2023
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:
RCV003451957.1

Allele description [Variation Report for NM_030787.4(CFHR5):c.826G>A (p.Glu276Lys)]

NM_030787.4(CFHR5):c.826G>A (p.Glu276Lys)

Gene:
CFHR5:complement factor H related 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q31.3
Genomic location:
Preferred name:
NM_030787.4(CFHR5):c.826G>A (p.Glu276Lys)
HGVS:
  • NC_000001.11:g.196996057G>A
  • NG_016365.1:g.23521G>A
  • NM_030787.4:c.826G>AMANE SELECT
  • NP_110414.1:p.Glu276Lys
  • LRG_227t1:c.826G>A
  • LRG_227:g.23521G>A
  • NC_000001.10:g.196965187G>A
  • NM_030787.3:c.826G>A
Protein change:
E276K
Links:
dbSNP: rs199531514
NCBI 1000 Genomes Browser:
rs199531514
Molecular consequence:
  • NM_030787.4:c.826G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CFHR5 deficiency
Identifiers:
MedGen: C3553720

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004177504Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Apr 11, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV004177504.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024