7-100884457-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_015908.6(SRRT):c.847C>T(p.Pro283Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000496 in 1,613,616 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015908.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151892Hom.: 0 Cov.: 28
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461724Hom.: 0 Cov.: 44 AF XY: 0.00000688 AC XY: 5AN XY: 727156
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151892Hom.: 0 Cov.: 28 AF XY: 0.0000135 AC XY: 1AN XY: 74180
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.847C>T (p.P283S) alteration is located in exon 7 (coding exon 6) of the SRRT gene. This alteration results from a C to T substitution at nucleotide position 847, causing the proline (P) at amino acid position 283 to be replaced by a serine (S). 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