20-62064838-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003185.4(TAF4):c.973G>C(p.Val325Leu) 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. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V325F) has been classified 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TAF4 | NM_003185.4 | c.973G>C | p.Val325Leu | missense_variant | Exon 1 of 15 | ENST00000252996.9 | NP_003176.2 | |
TAF4 | XM_047440429.1 | c.-144G>C | 5_prime_UTR_variant | Exon 2 of 16 | XP_047296385.1 | |||
MIR3195 | NR_130463.1 | n.37C>G | non_coding_transcript_exon_variant | Exon 1 of 1 | ||||
MIR3195 | unassigned_transcript_3472 | n.*10C>G | downstream_gene_variant |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 24
GnomAD4 exome Cov.: 22
GnomAD4 genome Cov.: 24
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at