5-66170157-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_001077199.3(SREK1):c.1108C>T(p.Arg370Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000279 in 1,611,068 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_001077199.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152068Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000442 AC: 11AN: 248820Hom.: 0 AF XY: 0.0000371 AC XY: 5AN XY: 134596
GnomAD4 exome AF: 0.0000260 AC: 38AN: 1459000Hom.: 0 Cov.: 31 AF XY: 0.0000220 AC XY: 16AN XY: 725764
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152068Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74260
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1108C>T (p.R370C) alteration is located in exon 8 (coding exon 8) of the SREK1 gene. This alteration results from a C to T substitution at nucleotide position 1108, causing the arginine (R) at amino acid position 370 to be replaced by a cysteine (C). 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