21-46161957-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001142854.2(SPATC1L):āc.655T>Cā(p.Tyr219His) variant causes a missense change. The variant allele was found at a frequency of 0.00000275 in 1,456,140 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ). Synonymous variant affecting the same amino acid position (i.e. Y219Y) has been classified as Likely benign.
Frequency
Consequence
NM_001142854.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SPATC1L | NM_001142854.2 | c.655T>C | p.Tyr219His | missense_variant | 4/5 | ENST00000291672.6 | |
SPATC1L | NM_032261.5 | c.193T>C | p.Tyr65His | missense_variant | 3/4 | ||
SPATC1L | XM_005261188.6 | c.655T>C | p.Tyr219His | missense_variant | 4/5 | ||
SPATC1L | XM_011529756.3 | c.313T>C | p.Tyr105His | missense_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SPATC1L | ENST00000291672.6 | c.655T>C | p.Tyr219His | missense_variant | 4/5 | 2 | NM_001142854.2 | P1 | |
SPATC1L | ENST00000330205.10 | c.193T>C | p.Tyr65His | missense_variant | 3/4 | 1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000275 AC: 4AN: 1456140Hom.: 0 Cov.: 35 AF XY: 0.00000276 AC XY: 2AN XY: 724580
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 20, 2023 | The c.655T>C (p.Y219H) alteration is located in exon 4 (coding exon 3) of the SPATC1L gene. This alteration results from a T to C substitution at nucleotide position 655, causing the tyrosine (Y) at amino acid position 219 to be replaced by a histidine (H). 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
Publications
No publications associated with this variant yet.