rs35154063
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_030926.6(ITM2C):c.645G>A(p.Gly215Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000164 in 1,461,708 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_030926.6 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ITM2C | ENST00000326427.11 | c.645G>A | p.Gly215Gly | synonymous_variant | Exon 5 of 6 | 1 | NM_030926.6 | ENSP00000322730.6 | ||
ITM2C | ENST00000326407.10 | c.534G>A | p.Gly178Gly | synonymous_variant | Exon 4 of 5 | 1 | ENSP00000322100.6 | |||
ITM2C | ENST00000335005.10 | c.504G>A | p.Gly168Gly | synonymous_variant | Exon 4 of 5 | 1 | ENSP00000335121.6 | |||
ITM2C | ENST00000409704.6 | c.459G>A | p.Gly153Gly | synonymous_variant | Exon 5 of 6 | 5 | ENSP00000387242.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251358Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135890
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461708Hom.: 0 Cov.: 33 AF XY: 0.0000151 AC XY: 11AN XY: 727174
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at