chr4-37960565-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_006607.3(PTTG2):āc.131G>Cā(p.Arg44Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.594 in 1,613,780 control chromosomes in the GnomAD database, including 290,836 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/18 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 nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_006607.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PTTG2 | ENST00000504686.2 | c.131G>C | p.Arg44Pro | missense_variant | Exon 1 of 1 | 6 | NM_006607.3 | ENSP00000424261.1 | ||
TBC1D1 | ENST00000698857.1 | c.418-53944G>C | intron_variant | Intron 2 of 21 | NM_001396959.1 | ENSP00000513987.1 |
Frequencies
GnomAD3 genomes AF: 0.635 AC: 96394AN: 151906Hom.: 31374 Cov.: 31
GnomAD3 exomes AF: 0.646 AC: 162039AN: 250724Hom.: 54201 AF XY: 0.637 AC XY: 86454AN XY: 135768
GnomAD4 exome AF: 0.590 AC: 861839AN: 1461756Hom.: 259399 Cov.: 61 AF XY: 0.591 AC XY: 429599AN XY: 727194
GnomAD4 genome AF: 0.635 AC: 96518AN: 152024Hom.: 31437 Cov.: 31 AF XY: 0.641 AC XY: 47624AN XY: 74320
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at