NM_003061.3:c.288G>C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003061.3(SLIT1):c.288G>C(p.Gln96His) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,858 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003061.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLIT1 | ENST00000266058.9 | c.288G>C | p.Gln96His | missense_variant | Exon 3 of 37 | 1 | NM_003061.3 | ENSP00000266058.4 | ||
ARHGAP19-SLIT1 | ENST00000479633.2 | n.*11G>C | non_coding_transcript_exon_variant | Exon 13 of 15 | 2 | ENSP00000473567.1 | ||||
ARHGAP19-SLIT1 | ENST00000479633.2 | n.*11G>C | 3_prime_UTR_variant | Exon 13 of 15 | 2 | ENSP00000473567.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461858Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727236
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.288G>C (p.Q96H) alteration is located in exon 3 (coding exon 3) of the SLIT1 gene. This alteration results from a G to C substitution at nucleotide position 288, causing the glutamine (Q) at amino acid position 96 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.