17-36953815-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_012138.4(AATF):c.740C>T(p.Ala247Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000198 in 1,614,022 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012138.4 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 |
---|---|---|---|---|---|---|---|---|
AATF | NM_012138.4 | c.740C>T | p.Ala247Val | missense_variant | Exon 4 of 12 | ENST00000619387.5 | NP_036270.1 | |
AATF | NM_001411094.1 | c.740C>T | p.Ala247Val | missense_variant | Exon 4 of 11 | NP_001398023.1 | ||
AATF | XM_047435748.1 | c.740C>T | p.Ala247Val | missense_variant | Exon 4 of 5 | XP_047291704.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152164Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251472Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135908
GnomAD4 exome AF: 0.0000198 AC: 29AN: 1461858Hom.: 0 Cov.: 31 AF XY: 0.0000193 AC XY: 14AN XY: 727228
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152164Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.740C>T (p.A247V) alteration is located in exon 4 (coding exon 4) of the AATF gene. This alteration results from a C to T substitution at nucleotide position 740, causing the alanine (A) at amino acid position 247 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