20-62064831-C-T
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBS1_SupportingBS2
The NM_003185.4(TAF4):c.980G>A(p.Gly327Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000473 in 972,554 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. 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. G327V) has been classified as Uncertain significance.
Frequency
Consequence
NM_003185.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TAF4 | NM_003185.4 | c.980G>A | p.Gly327Asp | missense_variant | Exon 1 of 15 | ENST00000252996.9 | NP_003176.2 | |
TAF4 | XM_047440429.1 | c.-137G>A | 5_prime_UTR_variant | Exon 2 of 16 | XP_047296385.1 | |||
MIR3195 | NR_130463.1 | n.30C>T | non_coding_transcript_exon_variant | Exon 1 of 1 | ||||
MIR3195 | unassigned_transcript_3472 | n.*3C>T | downstream_gene_variant |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000777 AC: 11AN: 141508Hom.: 0 Cov.: 24
GnomAD4 exome AF: 0.0000421 AC: 35AN: 831070Hom.: 0 Cov.: 23 AF XY: 0.0000443 AC XY: 17AN XY: 384024
GnomAD4 genome AF: 0.0000777 AC: 11AN: 141484Hom.: 0 Cov.: 24 AF XY: 0.0000727 AC XY: 5AN XY: 68732
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.980G>A (p.G327D) alteration is located in exon 1 (coding exon 1) of the TAF4 gene. This alteration results from a G to A substitution at nucleotide position 980, causing the glycine (G) at amino acid position 327 to be replaced by an aspartic acid (D). 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