chrX-18642002-C-A
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_000330.4(RS1):c.*2G>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000332 in 1,209,631 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 119 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_000330.4 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RS1 | NM_000330.4 | c.*2G>T | 3_prime_UTR_variant | Exon 6 of 6 | ENST00000379984.4 | NP_000321.1 | ||
RS1 | XM_047442337.1 | c.*2G>T | 3_prime_UTR_variant | Exon 4 of 4 | XP_047298293.1 | |||
CDKL5 | NM_001037343.2 | c.2714-4005C>A | intron_variant | Intron 19 of 21 | NP_001032420.1 | |||
CDKL5 | NM_003159.3 | c.2714-4005C>A | intron_variant | Intron 18 of 20 | NP_003150.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RS1 | ENST00000379984 | c.*2G>T | 3_prime_UTR_variant | Exon 6 of 6 | 1 | NM_000330.4 | ENSP00000369320.3 | |||
CDKL5 | ENST00000379989.6 | c.2714-4005C>A | intron_variant | Intron 19 of 21 | 1 | ENSP00000369325.3 | ||||
CDKL5 | ENST00000379996.7 | c.2714-4005C>A | intron_variant | Intron 18 of 20 | 1 | ENSP00000369332.3 | ||||
RS1 | ENST00000476595.1 | n.1168G>T | non_coding_transcript_exon_variant | Exon 5 of 5 | 1 |
Frequencies
GnomAD3 genomes AF: 0.000214 AC: 24AN: 112213Hom.: 0 Cov.: 23 AF XY: 0.000291 AC XY: 10AN XY: 34383
GnomAD3 exomes AF: 0.000181 AC: 33AN: 182349Hom.: 0 AF XY: 0.000134 AC XY: 9AN XY: 67199
GnomAD4 exome AF: 0.000344 AC: 377AN: 1097418Hom.: 0 Cov.: 31 AF XY: 0.000300 AC XY: 109AN XY: 363138
GnomAD4 genome AF: 0.000214 AC: 24AN: 112213Hom.: 0 Cov.: 23 AF XY: 0.000291 AC XY: 10AN XY: 34383
ClinVar
Submissions by phenotype
RS1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at