chr2-200439125-G-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001100423.2(SPATS2L):c.449G>A(p.Gly150Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00409 in 1,612,540 control chromosomes in the GnomAD database, including 14 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001100423.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SPATS2L | NM_001100423.2 | c.449G>A | p.Gly150Asp | missense_variant | 7/13 | ENST00000409140.8 | |
LOC101927741 | XR_007088047.1 | n.663-7588C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SPATS2L | ENST00000409140.8 | c.449G>A | p.Gly150Asp | missense_variant | 7/13 | 2 | NM_001100423.2 | P1 | |
ENST00000655656.1 | n.567-7588C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.00248 AC: 377AN: 152144Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00264 AC: 655AN: 248574Hom.: 0 AF XY: 0.00269 AC XY: 363AN XY: 134824
GnomAD4 exome AF: 0.00426 AC: 6226AN: 1460278Hom.: 14 Cov.: 31 AF XY: 0.00413 AC XY: 2997AN XY: 726510
GnomAD4 genome AF: 0.00248 AC: 377AN: 152262Hom.: 0 Cov.: 32 AF XY: 0.00223 AC XY: 166AN XY: 74452
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jun 21, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at