rs747865842
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_001018113.3(FANCB):āc.2228T>Gā(p.Phe743Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000408 in 1,200,821 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 10 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. F743Y) has been classified as Uncertain significance.
Frequency
Consequence
NM_001018113.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FANCB | NM_001018113.3 | c.2228T>G | p.Phe743Cys | missense_variant | 10/10 | ENST00000650831.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FANCB | ENST00000650831.1 | c.2228T>G | p.Phe743Cys | missense_variant | 10/10 | NM_001018113.3 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.000286 AC: 32AN: 111954Hom.: 0 Cov.: 23 AF XY: 0.000176 AC XY: 6AN XY: 34110
GnomAD3 exomes AF: 0.0000781 AC: 14AN: 179232Hom.: 0 AF XY: 0.0000621 AC XY: 4AN XY: 64442
GnomAD4 exome AF: 0.0000156 AC: 17AN: 1088813Hom.: 0 Cov.: 28 AF XY: 0.0000113 AC XY: 4AN XY: 354785
GnomAD4 genome ? AF: 0.000286 AC: 32AN: 112008Hom.: 0 Cov.: 23 AF XY: 0.000176 AC XY: 6AN XY: 34174
ClinVar
Submissions by phenotype
Fanconi anemia Benign:2
Likely benign, criteria provided, single submitter | curation | Sema4, Sema4 | Mar 31, 2021 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jul 24, 2021 | - - |
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Dec 07, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at