chr2-60452594-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 1P and 0B. PP2
The ENST00000358510.6(BCL11A):c.2353C>G(p.Arg785Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000616 in 1,461,708 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R785P) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000358510.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BCL11A | NM_001405710.1 | c.2455C>G | p.Arg819Gly | missense_variant | 5/5 | ||
BCL11A | NM_001363864.1 | c.2353C>G | p.Arg785Gly | missense_variant | 4/4 | ||
BCL11A | NM_001405716.1 | c.2299C>G | p.Arg767Gly | missense_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BCL11A | ENST00000358510.6 | c.2353C>G | p.Arg785Gly | missense_variant | 4/4 | 1 | |||
BCL11A | ENST00000356842.9 | c.2303C>G | p.Ser768Trp | missense_variant | 5/5 | 1 | |||
BCL11A | ENST00000359629.10 | c.703C>G | p.Arg235Gly | missense_variant | 5/5 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461708Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 727148
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Dias-Logan syndrome Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Baylor Genetics | Jan 15, 2020 | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at