rs140497485
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001002909.4(GPATCH8):āc.3473A>Gā(p.Asn1158Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000111 in 1,550,192 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001002909.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000532 AC: 81AN: 152148Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000212 AC: 41AN: 193736Hom.: 0 AF XY: 0.000195 AC XY: 20AN XY: 102644
GnomAD4 exome AF: 0.0000651 AC: 91AN: 1397926Hom.: 0 Cov.: 34 AF XY: 0.0000580 AC XY: 40AN XY: 689700
GnomAD4 genome AF: 0.000532 AC: 81AN: 152266Hom.: 0 Cov.: 32 AF XY: 0.000457 AC XY: 34AN XY: 74452
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at