chr2-9911551-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005680.3(TAF1B):āc.1174A>Gā(p.Lys392Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000118 in 1,519,556 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_005680.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TAF1B | NM_005680.3 | c.1174A>G | p.Lys392Glu | missense_variant | 11/15 | ENST00000263663.10 | NP_005671.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TAF1B | ENST00000263663.10 | c.1174A>G | p.Lys392Glu | missense_variant | 11/15 | 1 | NM_005680.3 | ENSP00000263663.4 | ||
TAF1B | ENST00000492648.2 | c.487A>G | p.Lys163Glu | missense_variant | 5/6 | 5 | ENSP00000475608.1 | |||
TAF1B | ENST00000434858.5 | n.*435A>G | non_coding_transcript_exon_variant | 10/14 | 2 | ENSP00000414184.1 | ||||
TAF1B | ENST00000434858.5 | n.*435A>G | 3_prime_UTR_variant | 10/14 | 2 | ENSP00000414184.1 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152244Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000146 AC: 3AN: 206162Hom.: 0 AF XY: 0.00000883 AC XY: 1AN XY: 113194
GnomAD4 exome AF: 0.00000512 AC: 7AN: 1367312Hom.: 0 Cov.: 26 AF XY: 0.00000587 AC XY: 4AN XY: 681450
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152244Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74386
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 18, 2023 | The c.1174A>G (p.K392E) alteration is located in exon 11 (coding exon 11) of the TAF1B gene. This alteration results from a A to G substitution at nucleotide position 1174, causing the lysine (K) at amino acid position 392 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at