11-64361727-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_003942.3(RPS6KA4):c.737C>T(p.Thr246Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000821 in 1,607,274 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_003942.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000461 AC: 7AN: 151690Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000164 AC: 40AN: 244212Hom.: 0 AF XY: 0.000225 AC XY: 30AN XY: 133088
GnomAD4 exome AF: 0.0000859 AC: 125AN: 1455466Hom.: 0 Cov.: 32 AF XY: 0.000115 AC XY: 83AN XY: 724144
GnomAD4 genome AF: 0.0000461 AC: 7AN: 151808Hom.: 0 Cov.: 32 AF XY: 0.0000809 AC XY: 6AN XY: 74186
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.737C>T (p.T246M) alteration is located in exon 7 (coding exon 7) of the RPS6KA4 gene. This alteration results from a C to T substitution at nucleotide position 737, causing the threonine (T) at amino acid position 246 to be replaced by a methionine (M). 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