rs121918364
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_014467.3(SRPX2):c.215A>C(p.Tyr72Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000413 in 1,209,383 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 13 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014467.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SRPX2 | NM_014467.3 | c.215A>C | p.Tyr72Ser | missense_variant | 4/11 | ENST00000373004.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SRPX2 | ENST00000373004.5 | c.215A>C | p.Tyr72Ser | missense_variant | 4/11 | 1 | NM_014467.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000449 AC: 5AN: 111243Hom.: 0 Cov.: 23 AF XY: 0.0000298 AC XY: 1AN XY: 33519
GnomAD3 exomes AF: 0.0000327 AC: 6AN: 183411Hom.: 0 AF XY: 0.0000442 AC XY: 3AN XY: 67857
GnomAD4 exome AF: 0.0000410 AC: 45AN: 1098140Hom.: 0 Cov.: 31 AF XY: 0.0000330 AC XY: 12AN XY: 363494
GnomAD4 genome ? AF: 0.0000449 AC: 5AN: 111243Hom.: 0 Cov.: 23 AF XY: 0.0000298 AC XY: 1AN XY: 33519
ClinVar
Submissions by phenotype
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked Pathogenic:1Uncertain:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Aug 01, 2013 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Aug 06, 2020 | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been reported to affect SRPX2 protein function (PMID: 16497722, 23831613, 18718938). This variant has been observed in individual(s) with SRPX2-related conditions (PMID: 16497722). ClinVar contains an entry for this variant (Variation ID: 10776). This variant is present in population databases (rs121918364, ExAC 0.002%). This sequence change replaces tyrosine with serine at codon 72 of the SRPX2 protein (p.Tyr72Ser). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and serine. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at