6-107490642-G-A
Variant summary
Our verdict is Uncertain significance. The variant received 1 ACMG points: 2P and 1B. PM2BP4
The NM_018013.4(SOBP):c.26G>A(p.Arg9Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 151,978 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018013.4 missense
Scores
Clinical Significance
Conservation
Publications
- intellectual disability, anterior maxillary protrusion, and strabismusInheritance: Unknown, AR Classification: SUPPORTIVE, LIMITED Submitted by: Labcorp Genetics (formerly Invitae), G2P, Orphanet
- syndromic intellectual disabilityInheritance: AR Classification: LIMITED Submitted by: ClinGen
Genome browser will be placed here
ACMG classification
Our verdict: Uncertain_significance. The variant received 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SOBP | ENST00000317357.10 | c.26G>A | p.Arg9Lys | missense_variant | Exon 1 of 7 | 5 | NM_018013.4 | ENSP00000318900.5 | ||
SOBP | ENST00000618129.1 | c.26G>A | p.Arg9Lys | missense_variant | Exon 1 of 4 | 1 | ENSP00000478366.1 | |||
SOBP | ENST00000477448.1 | n.537G>A | non_coding_transcript_exon_variant | Exon 1 of 5 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151978Hom.: 0 Cov.: 31 show subpopulations
GnomAD4 exome Cov.: 30
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151978Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74212 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.26G>A (p.R9K) alteration is located in exon 1 (coding exon 1) of the SOBP gene. This alteration results from a G to A substitution at nucleotide position 26, causing the arginine (R) at amino acid position 9 to be replaced by a lysine (K). 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