20-62064871-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003185.4(TAF4):c.940G>C(p.Ala314Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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_003185.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TAF4 | NM_003185.4 | c.940G>C | p.Ala314Pro | missense_variant | Exon 1 of 15 | ENST00000252996.9 | NP_003176.2 | |
TAF4 | XM_047440429.1 | c.-177G>C | 5_prime_UTR_variant | Exon 2 of 16 | XP_047296385.1 | |||
MIR3195 | NR_130463.1 | n.70C>G | non_coding_transcript_exon_variant | Exon 1 of 1 | ||||
MIR3195 | unassigned_transcript_3472 | n.*43C>G | downstream_gene_variant |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome Cov.: 14
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.940G>C (p.A314P) alteration is located in exon 1 (coding exon 1) of the TAF4 gene. This alteration results from a G to C substitution at nucleotide position 940, causing the alanine (A) at amino acid position 314 to be replaced by a proline (P). 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
Publications
No publications associated with this variant yet.