rs114810692
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The ENST00000310775.12(FANCI):c.3525C>A(p.Ala1175=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00112 in 1,614,122 control chromosomes in the GnomAD database, including 9 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. A1175A) has been classified as Likely benign.
Frequency
Consequence
ENST00000310775.12 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FANCI | NM_001113378.2 | c.3525C>A | p.Ala1175= | synonymous_variant | 32/38 | ENST00000310775.12 | NP_001106849.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FANCI | ENST00000310775.12 | c.3525C>A | p.Ala1175= | synonymous_variant | 32/38 | 1 | NM_001113378.2 | ENSP00000310842 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00580 AC: 883AN: 152144Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00138 AC: 346AN: 251468Hom.: 1 AF XY: 0.000993 AC XY: 135AN XY: 135910
GnomAD4 exome AF: 0.000633 AC: 926AN: 1461860Hom.: 7 Cov.: 32 AF XY: 0.000586 AC XY: 426AN XY: 727232
GnomAD4 genome AF: 0.00584 AC: 889AN: 152262Hom.: 2 Cov.: 32 AF XY: 0.00560 AC XY: 417AN XY: 74446
ClinVar
Submissions by phenotype
Fanconi anemia complementation group I Benign:3
Benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Apr 27, 2017 | 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. - |
Benign, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Aug 16, 2021 | - - |
Benign, criteria provided, single submitter | clinical testing | KCCC/NGS Laboratory, Kuwait Cancer Control Center | Jul 07, 2023 | - - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Jun 26, 2019 | - - |
Fanconi anemia Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Feb 01, 2024 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at