chr5-66170712-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001077199.3(SREK1):c.1249C>T(p.Arg417Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000562 in 1,601,768 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R417Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_001077199.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000134 AC: 2AN: 149014Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000437 AC: 1AN: 228846Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 123486
GnomAD4 exome AF: 0.00000482 AC: 7AN: 1452754Hom.: 0 Cov.: 31 AF XY: 0.00000416 AC XY: 3AN XY: 721900
GnomAD4 genome AF: 0.0000134 AC: 2AN: 149014Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 1AN XY: 72526
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1249C>T (p.R417W) alteration is located in exon 9 (coding exon 9) of the SREK1 gene. This alteration results from a C to T substitution at nucleotide position 1249, causing the arginine (R) at amino acid position 417 to be replaced by a tryptophan (W). 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