chr10-103368204-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_006951.5(TAF5):c.215C>T(p.Ala72Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000201 in 1,405,308 control chromosomes in the GnomAD database, including 1 homozygotes. 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 (★).
Frequency
Consequence
NM_006951.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000210 AC: 32AN: 152170Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000110 AC: 4AN: 36244Hom.: 0 AF XY: 0.0000462 AC XY: 1AN XY: 21622
GnomAD4 exome AF: 0.000199 AC: 250AN: 1253138Hom.: 1 Cov.: 33 AF XY: 0.000205 AC XY: 125AN XY: 609150
GnomAD4 genome AF: 0.000210 AC: 32AN: 152170Hom.: 0 Cov.: 33 AF XY: 0.000134 AC XY: 10AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.215C>T (p.A72V) alteration is located in exon 1 (coding exon 1) of the TAF5 gene. This alteration results from a C to T substitution at nucleotide position 215, causing the alanine (A) at amino acid position 72 to be replaced by a valine (V). 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