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NM_000186.3(CFH):c.1204C>T (p.His402Tyr)

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
4 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000294490.1
Variation ID:
294490
Description:
single nucleotide variant
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NM_000186.3(CFH):c.1204C>T (p.His402Tyr)

Allele ID
278205
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q31.3
Genomic location
1: 196690107 (GRCh38) GRCh38 UCSC
1: 196659237 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.196659237C>T
NC_000001.11:g.196690107C>T
NM_000186.3:c.1204C>T NP_000177.2:p.His402Tyr missense
... more HGVS
Protein change
H402Y
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.26657 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.63410
Exome Aggregation Consortium (ExAC) 0.67207
Trans-Omics for Precision Medicine (TOPMed) 0.65885
The Genome Aggregation Database (gnomAD), exomes 0.67975
1000 Genomes Project 0.73343
Links
ClinGen: CA1305284
dbSNP: rs1061170
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000296616.1
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000327040.1
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000349294.1
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000388493.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CFH - - GRCh38
GRCh37
123 168

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Atypical Hemolytic-Uremic Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000352393.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000352395.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Macular Degeneration
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000352392.2
Submitted: (Oct 18, 2016)
Evidence details
Publications
PubMed (3)
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Basal Laminar Drusen
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000352394.2
Submitted: (Oct 18, 2016)
Evidence details

Citations for this variant

Title Author Journal Year Link
Long-range PCR facilitates the identification of PMS2-specific mutations. Clendenning M Human mutation 2006 PMID: 16619239
Complement factor H variant increases the risk of age-related macular degeneration. Haines JL Science (New York, N.Y.) 2005 PMID: 15761120
VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Héon E Human molecular genetics 2002 PMID: 11978762

Record last updated Oct 27, 2019