rs2230396
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP7BS2
The NM_002211.4(ITGB1):āc.1176C>Gā(p.Gly392=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000403 in 1,612,606 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. Synonymous variant affecting the same amino acid position (i.e. G392G) has been classified as Benign.
Frequency
Consequence
NM_002211.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ITGB1 | NM_002211.4 | c.1176C>G | p.Gly392= | synonymous_variant | 10/16 | ENST00000302278.8 | |
ITGB1 | NM_033668.2 | c.1176C>G | p.Gly392= | synonymous_variant | 9/16 | ||
ITGB1 | NM_133376.3 | c.1176C>G | p.Gly392= | synonymous_variant | 10/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ITGB1 | ENST00000302278.8 | c.1176C>G | p.Gly392= | synonymous_variant | 10/16 | 1 | NM_002211.4 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.0000395 AC: 6AN: 152020Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000637 AC: 16AN: 251006Hom.: 0 AF XY: 0.0000811 AC XY: 11AN XY: 135650
GnomAD4 exome AF: 0.0000404 AC: 59AN: 1460586Hom.: 0 Cov.: 37 AF XY: 0.0000427 AC XY: 31AN XY: 726752
GnomAD4 genome ? AF: 0.0000395 AC: 6AN: 152020Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74244
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at