19-44613682-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001205280.2(IGSF23):āc.37C>Gā(p.Pro13Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000218 in 1,550,230 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001205280.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IGSF23 | NM_001205280.2 | c.37C>G | p.Pro13Ala | missense_variant | 1/5 | ENST00000402988.6 | NP_001192209.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IGSF23 | ENST00000402988.6 | c.37C>G | p.Pro13Ala | missense_variant | 1/5 | 3 | NM_001205280.2 | ENSP00000385592 | P1 | |
CEACAM22P | ENST00000455455.1 | n.57+7083G>C | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.000447 AC: 68AN: 152082Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000228 AC: 34AN: 148912Hom.: 0 AF XY: 0.000187 AC XY: 15AN XY: 80140
GnomAD4 exome AF: 0.000193 AC: 270AN: 1398030Hom.: 0 Cov.: 32 AF XY: 0.000193 AC XY: 133AN XY: 689502
GnomAD4 genome AF: 0.000447 AC: 68AN: 152200Hom.: 0 Cov.: 32 AF XY: 0.000511 AC XY: 38AN XY: 74418
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 09, 2024 | The c.37C>G (p.P13A) alteration is located in exon 1 (coding exon 1) of the IGSF23 gene. This alteration results from a C to G substitution at nucleotide position 37, causing the proline (P) at amino acid position 13 to be replaced by an alanine (A). 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