rs2837035
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_146618.2(GET1-SH3BGR):n.1195-15922A>G variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.156 in 152,132 control chromosomes in the GnomAD database, including 2,059 homozygotes. 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
NR_146618.2 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GET1-SH3BGR | NR_146618.2 | n.1195-15922A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SH3BGR | ENST00000380631.5 | c.-100+372A>G | intron_variant | 5 | |||||
SH3BGR | ENST00000380634.5 | c.-100+561A>G | intron_variant | 5 | |||||
SH3BGR | ENST00000380637.7 | c.-100+524A>G | intron_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.156 AC: 23643AN: 152014Hom.: 2058 Cov.: 32
GnomAD4 genome ? AF: 0.156 AC: 23658AN: 152132Hom.: 2059 Cov.: 32 AF XY: 0.161 AC XY: 11948AN XY: 74362
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at