rs150589706
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The ENST00000287482.6(SASS6):c.86G>A(p.Ser29Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000573 in 1,557,386 control chromosomes in the GnomAD database, including 10 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
ENST00000287482.6 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SASS6 | NM_194292.3 | c.86G>A | p.Ser29Asn | missense_variant | 2/17 | ENST00000287482.6 | NP_919268.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SASS6 | ENST00000287482.6 | c.86G>A | p.Ser29Asn | missense_variant | 2/17 | 1 | NM_194292.3 | ENSP00000287482 | P1 | |
SASS6 | ENST00000462159.1 | n.227G>A | non_coding_transcript_exon_variant | 2/16 | 1 |
Frequencies
GnomAD3 genomes AF: 0.000427 AC: 65AN: 152188Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00101 AC: 231AN: 228388Hom.: 1 AF XY: 0.00133 AC XY: 165AN XY: 124226
GnomAD4 exome AF: 0.000589 AC: 828AN: 1405080Hom.: 10 Cov.: 24 AF XY: 0.000857 AC XY: 601AN XY: 701114
GnomAD4 genome AF: 0.000427 AC: 65AN: 152306Hom.: 0 Cov.: 33 AF XY: 0.000577 AC XY: 43AN XY: 74476
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Apr 25, 2017 | - - |
SASS6-related disorder Benign:1
Benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Jun 06, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Microcephaly 14, primary, autosomal recessive Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Apr 11, 2023 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Apr 30, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at