8-67149929-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001382391.1(CSPP1):c.2122A>G(p.Ser708Gly) variant causes a missense change. The variant allele was found at a frequency of 0.000418 in 1,557,668 control chromosomes in the GnomAD database, including 10 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S708R) has been classified as Uncertain significance.
Frequency
Consequence
NM_001382391.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CSPP1 | NM_001382391.1 | c.2122A>G | p.Ser708Gly | missense_variant | 18/31 | ENST00000678616.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CSPP1 | ENST00000678616.1 | c.2122A>G | p.Ser708Gly | missense_variant | 18/31 | NM_001382391.1 |
Frequencies
GnomAD3 genomes ? AF: 0.000326 AC: 49AN: 150494Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00101 AC: 196AN: 193808Hom.: 3 AF XY: 0.00119 AC XY: 127AN XY: 107024
GnomAD4 exome AF: 0.000429 AC: 603AN: 1407066Hom.: 8 Cov.: 32 AF XY: 0.000595 AC XY: 416AN XY: 699284
GnomAD4 genome ? AF: 0.000319 AC: 48AN: 150602Hom.: 2 Cov.: 32 AF XY: 0.000422 AC XY: 31AN XY: 73496
ClinVar
Submissions by phenotype
Joubert syndrome 21 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 31, 2023 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Mar 01, 2024 | CSPP1: BP4, BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at