rs754552650
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001018113.3(FANCB):āc.869T>Cā(p.Met290Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000197 in 1,208,243 control chromosomes in the GnomAD database, including 1 homozygotes. There are 89 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_001018113.3 missense
Scores
Clinical Significance
Conservation
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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.869T>C | p.Met290Thr | missense_variant | 3/10 | ENST00000650831.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FANCB | ENST00000650831.1 | c.869T>C | p.Met290Thr | missense_variant | 3/10 | NM_001018113.3 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.000178 AC: 20AN: 112448Hom.: 0 Cov.: 23 AF XY: 0.000289 AC XY: 10AN XY: 34590
GnomAD3 exomes AF: 0.000453 AC: 83AN: 183393Hom.: 1 AF XY: 0.000486 AC XY: 33AN XY: 67859
GnomAD4 exome AF: 0.000199 AC: 218AN: 1095744Hom.: 1 Cov.: 30 AF XY: 0.000219 AC XY: 79AN XY: 361164
GnomAD4 genome ? AF: 0.000178 AC: 20AN: 112499Hom.: 0 Cov.: 23 AF XY: 0.000289 AC XY: 10AN XY: 34651
ClinVar
Submissions by phenotype
Fanconi anemia Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
Likely benign, criteria provided, single submitter | curation | Sema4, Sema4 | Mar 10, 2022 | - - |
VACTERL with hydrocephalus Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jun 14, 2016 | - - |
FANCB-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Sep 02, 2020 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Fanconi Anemia, X-Linked Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jun 14, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at