rs201633684
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_Very_StrongBP7BS2_Supporting
The NM_001018113.3(FANCB):āc.330A>Cā(p.Leu110=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00011 in 1,163,559 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 33 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_001018113.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FANCB | NM_001018113.3 | c.330A>C | p.Leu110= | synonymous_variant | 3/10 | ENST00000650831.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FANCB | ENST00000650831.1 | c.330A>C | p.Leu110= | synonymous_variant | 3/10 | NM_001018113.3 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000889 AC: 10AN: 112466Hom.: 0 Cov.: 23 AF XY: 0.0000578 AC XY: 2AN XY: 34606
GnomAD3 exomes AF: 0.000180 AC: 27AN: 150261Hom.: 0 AF XY: 0.000155 AC XY: 8AN XY: 51523
GnomAD4 exome AF: 0.000112 AC: 118AN: 1051041Hom.: 0 Cov.: 27 AF XY: 0.0000928 AC XY: 31AN XY: 334147
GnomAD4 genome ? AF: 0.0000889 AC: 10AN: 112518Hom.: 0 Cov.: 23 AF XY: 0.0000577 AC XY: 2AN XY: 34668
ClinVar
Submissions by phenotype
Fanconi anemia complementation group B Benign:1
Benign, criteria provided, single submitter | clinical testing | KCCC/NGS Laboratory, Kuwait Cancer Control Center | Jul 07, 2023 | - - |
Fanconi anemia Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 20, 2024 | - - |
Fanconi anemia complementation group B;C2931228:VACTERL association, X-linked, with or without hydrocephalus Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Mar 04, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at