rs746389250
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001018113.3(FANCB):c.706G>A(p.Val236Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000126 in 1,205,846 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 90 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. V236V) has been classified as Likely benign.
Frequency
Consequence
NM_001018113.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FANCB | NM_001018113.3 | c.706G>A | p.Val236Met | missense_variant | 3/10 | ENST00000650831.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FANCB | ENST00000650831.1 | c.706G>A | p.Val236Met | missense_variant | 3/10 | NM_001018113.3 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000712 AC: 8AN: 112391Hom.: 0 Cov.: 23 AF XY: 0.000145 AC XY: 5AN XY: 34551
GnomAD3 exomes AF: 0.000240 AC: 44AN: 183060Hom.: 0 AF XY: 0.000355 AC XY: 24AN XY: 67682
GnomAD4 exome AF: 0.000132 AC: 144AN: 1093403Hom.: 0 Cov.: 29 AF XY: 0.000237 AC XY: 85AN XY: 358955
GnomAD4 genome ? AF: 0.0000711 AC: 8AN: 112443Hom.: 0 Cov.: 23 AF XY: 0.000144 AC XY: 5AN XY: 34613
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Oct 31, 2018 | - - |
Fanconi anemia Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 21, 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 | Nov 05, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at