X-14796872-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PVS1_ModeratePM2
The NM_001410764.1(FANCB):c.2654G>A(p.Trp885*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000273 in 110,081 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001410764.1 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FANCB | NM_001410764.1 | c.2654G>A | p.Trp885* | stop_gained | Exon 12 of 13 | NP_001397693.1 | ||
FANCB | XR_001755672.2 | n.2929G>A | non_coding_transcript_exon_variant | Exon 12 of 15 | ||||
FANCB | XR_001755673.2 | n.6871G>A | non_coding_transcript_exon_variant | Exon 11 of 14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FANCB | ENST00000696353.1 | c.2654G>A | p.Trp885* | stop_gained | Exon 12 of 13 | ENSP00000512574.1 | ||||
FANCB | ENST00000696354 | c.*271G>A | 3_prime_UTR_variant | Exon 11 of 11 | ENSP00000512575.1 | |||||
FANCB | ENST00000696322.1 | n.*1659G>A | non_coding_transcript_exon_variant | Exon 10 of 10 | ENSP00000512559.1 |
Frequencies
GnomAD3 genomes AF: 0.0000273 AC: 3AN: 110081Hom.: 0 Cov.: 21 AF XY: 0.0000309 AC XY: 1AN XY: 32311
GnomAD4 genome AF: 0.0000273 AC: 3AN: 110081Hom.: 0 Cov.: 21 AF XY: 0.0000309 AC XY: 1AN XY: 32311
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Mar 01, 2023 | FANCB: PVS1:Moderate - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at