11-15200866-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001042536.3(INSC):c.736A>T(p.Ser246Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000062 in 1,613,878 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001042536.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
INSC | NM_001042536.3 | c.736A>T | p.Ser246Cys | missense_variant | 7/13 | ENST00000379556.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
INSC | ENST00000379556.8 | c.736A>T | p.Ser246Cys | missense_variant | 7/13 | 1 | NM_001042536.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152024Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000281 AC: 7AN: 249406Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135322
GnomAD4 exome AF: 0.0000636 AC: 93AN: 1461854Hom.: 0 Cov.: 31 AF XY: 0.0000536 AC XY: 39AN XY: 727220
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152024Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74248
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 15, 2023 | The c.877A>T (p.S293C) alteration is located in exon 7 (coding exon 7) of the INSC gene. This alteration results from a A to T substitution at nucleotide position 877, causing the serine (S) at amino acid position 293 to be replaced by a cysteine (C). 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