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NM_000186.4(CFH):c.1707C>T (p.Cys569=) AND Hemolytic uremic syndrome, atypical, susceptibility to, 1

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:
RCV003454934.1

Allele description [Variation Report for NM_000186.4(CFH):c.1707C>T (p.Cys569=)]

NM_000186.4(CFH):c.1707C>T (p.Cys569=)

Gene:
CFH:complement factor H [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q31.3
Genomic location:
Preferred name:
NM_000186.4(CFH):c.1707C>T (p.Cys569=)
HGVS:
  • NC_000001.11:g.196725131C>T
  • NG_007259.1:g.78121C>T
  • NM_000186.4:c.1707C>TMANE SELECT
  • NP_000177.2:p.Cys569=
  • LRG_47t1:c.1707C>T
  • LRG_47:g.78121C>T
  • NC_000001.10:g.196694261C>T
  • NC_000001.10:g.196694261C>T
  • NM_000186.3:c.1707C>T
Links:
dbSNP: rs144976181
NCBI 1000 Genomes Browser:
rs144976181
Molecular consequence:
  • NM_000186.4:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Synonyms:
AHUS, SUSCEPTIBILITY TO, 1; Atypical hemolytic-uremic syndrome 1
Identifiers:
MONDO: MONDO:0009335; MedGen: C2749604; Orphanet: 2134; Orphanet: 90038; OMIM: 235400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004180819Genome-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, SCV004180819.1

#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: Oct 20, 2024