chr11-18704529-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_173588.4(IGSF22):āc.3920A>Gā(p.Asp1307Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000131 in 1,548,686 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_173588.4 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IGSF22 | NM_173588.4 | c.3920A>G | p.Asp1307Gly | missense_variant | 23/23 | ENST00000513874.6 | NP_775859.4 | |
TMEM86A | NM_153347.3 | c.*2520T>C | 3_prime_UTR_variant | 3/3 | ENST00000280734.3 | NP_699178.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IGSF22 | ENST00000513874.6 | c.3920A>G | p.Asp1307Gly | missense_variant | 23/23 | 5 | NM_173588.4 | ENSP00000421191 | P1 | |
TMEM86A | ENST00000280734.3 | c.*2520T>C | 3_prime_UTR_variant | 3/3 | 1 | NM_153347.3 | ENSP00000280734 | P1 | ||
IGSF22 | ENST00000319338.6 | c.*816A>G | 3_prime_UTR_variant, NMD_transcript_variant | 21/21 | 2 | ENSP00000322422 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152072Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000911 AC: 14AN: 153656Hom.: 0 AF XY: 0.0000858 AC XY: 7AN XY: 81574
GnomAD4 exome AF: 0.000140 AC: 195AN: 1396614Hom.: 0 Cov.: 28 AF XY: 0.000139 AC XY: 96AN XY: 689072
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152072Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74284
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 23, 2021 | The c.3920A>G (p.D1307G) alteration is located in exon 23 (coding exon 22) of the IGSF22 gene. This alteration results from a A to G substitution at nucleotide position 3920, causing the aspartic acid (D) at amino acid position 1307 to be replaced by a glycine (G). 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