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NM_000186.4(CFH):c.245-1G>C AND Hemolytic uremic syndrome, atypical, susceptibility to, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 8, 2021
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:
RCV004545929.2

Allele description [Variation Report for NM_000186.4(CFH):c.245-1G>C]

NM_000186.4(CFH):c.245-1G>C

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.245-1G>C
HGVS:
  • NC_000001.11:g.196673856G>C
  • NG_007259.1:g.26846G>C
  • NM_000186.4:c.245-1G>CMANE SELECT
  • NM_001014975.3:c.245-1G>C
  • LRG_47:g.26846G>C
  • NC_000001.10:g.196642986G>C
Molecular consequence:
  • NM_000186.4:c.245-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001014975.3:c.245-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005040908MVZ Medizinische Genetik Mainz
criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)
Pathogenic
(Dec 8, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV005040908.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

ACMG Criteria: PVS1, PM2_SUP, PP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 2, 2024