1-196726612-A-G
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_000186.4(CFH):c.2016A>G(p.Gln672Gln) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.174 in 1,608,810 control chromosomes in the GnomAD database, including 28,710 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000186.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CFH | NM_000186.4 | c.2016A>G | p.Gln672Gln | synonymous_variant | Exon 13 of 22 | ENST00000367429.9 | NP_000177.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CFH | ENST00000367429.9 | c.2016A>G | p.Gln672Gln | synonymous_variant | Exon 13 of 22 | 1 | NM_000186.4 | ENSP00000356399.4 | ||
ENSG00000289697 | ENST00000696032.1 | c.2016A>G | p.Gln672Gln | synonymous_variant | Exon 13 of 27 | ENSP00000512341.1 |
Frequencies
GnomAD3 genomes AF: 0.152 AC: 23159AN: 152090Hom.: 2399 Cov.: 32
GnomAD3 exomes AF: 0.204 AC: 51150AN: 250754Hom.: 6984 AF XY: 0.196 AC XY: 26513AN XY: 135512
GnomAD4 exome AF: 0.177 AC: 257139AN: 1456602Hom.: 26311 Cov.: 32 AF XY: 0.175 AC XY: 126598AN XY: 724974
GnomAD4 genome AF: 0.152 AC: 23152AN: 152208Hom.: 2399 Cov.: 32 AF XY: 0.153 AC XY: 11375AN XY: 74398
ClinVar
Submissions by phenotype
not specified Benign:2
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Hemolytic uremic syndrome, atypical, susceptibility to, 1 Benign:2
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. -
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not provided Benign:2
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Age related macular degeneration 4 Benign:2
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This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. -
Basal laminar drusen Benign:2
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This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. -
Factor H deficiency Benign:1
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CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. -
Focal segmental glomerulosclerosis Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at