19-34300571-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_014686.5(GARRE1):c.98C>T(p.Pro33Leu) variant causes a missense change. The variant allele was found at a frequency of 0.000018 in 1,613,452 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014686.5 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: 0.0000986 AC: 15AN: 152172Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000681 AC: 17AN: 249808Hom.: 0 AF XY: 0.0000665 AC XY: 9AN XY: 135276
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461162Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 726928
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152290Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74454
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.98C>T (p.P33L) alteration is located in exon 2 (coding exon 1) of the KIAA0355 gene. This alteration results from a C to T substitution at nucleotide position 98, causing the proline (P) at amino acid position 33 to be replaced by a leucine (L). 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