X-53250935-C-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001111125.3(IQSEC2):āc.1641G>Cā(p.Ala547=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A547A) has been classified as Benign.
Frequency
Consequence
NM_001111125.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IQSEC2 | NM_001111125.3 | c.1641G>C | p.Ala547= | synonymous_variant | 5/15 | ENST00000642864.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IQSEC2 | ENST00000642864.1 | c.1641G>C | p.Ala547= | synonymous_variant | 5/15 | NM_001111125.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD3 exomes AF: 0.000474 AC: 77AN: 162299Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 56191
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000433 AC: 47AN: 1086480Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 356084
GnomAD4 genome Cov.: 23
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at