NM_017871.6:c.1595G>T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_017871.6(INTS11):c.1595G>T(p.Ser532Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000203 in 1,480,100 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. 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. S532N) has been classified as Uncertain significance.
Frequency
Consequence
NM_017871.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000791 AC: 1AN: 126488Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000148 AC: 2AN: 1353612Hom.: 0 Cov.: 36 AF XY: 0.00 AC XY: 0AN XY: 663952
GnomAD4 genome AF: 0.00000791 AC: 1AN: 126488Hom.: 0 Cov.: 31 AF XY: 0.0000167 AC XY: 1AN XY: 59860
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at