rs10506540
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The ENST00000652412.1(ENSG00000257083):n.516-55152C>T 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 0.00256 in 152,204 control chromosomes in the GnomAD database, including 3 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
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GRIP1 | NM_001379349.1 | c.58+49733C>T | intron_variant | ||||
GRIP1 | NM_001379351.1 | c.58+49733C>T | intron_variant | ||||
GRIP1 | XM_005268754.5 | c.58+49733C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000652412.1 | n.516-55152C>T | intron_variant, non_coding_transcript_variant | |||||||
GRIP1 | ENST00000643019.1 | c.58+49733C>T | intron_variant | ||||||
GRIP1 | ENST00000535721.1 | n.113+49733C>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00256 AC: 389AN: 152086Hom.: 3 Cov.: 32
GnomAD4 genome ? AF: 0.00256 AC: 390AN: 152204Hom.: 3 Cov.: 32 AF XY: 0.00255 AC XY: 190AN XY: 74398
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at