rs6257
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001040.5(SHBG):c.112-17T>C variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0985 in 1,612,454 control chromosomes in the GnomAD database, including 8,774 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
NM_001040.5 splice_polypyrimidine_tract, intron
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 |
---|---|---|---|---|---|---|---|
SHBG | NM_001040.5 | c.112-17T>C | splice_polypyrimidine_tract_variant, intron_variant | ENST00000380450.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SHBG | ENST00000380450.9 | c.112-17T>C | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_001040.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0809 AC: 12302AN: 152058Hom.: 589 Cov.: 32
GnomAD3 exomes AF: 0.0936 AC: 23539AN: 251390Hom.: 1437 AF XY: 0.103 AC XY: 13958AN XY: 135876
GnomAD4 exome AF: 0.100 AC: 146468AN: 1460278Hom.: 8184 Cov.: 31 AF XY: 0.104 AC XY: 75436AN XY: 726560
GnomAD4 genome ? AF: 0.0808 AC: 12303AN: 152176Hom.: 590 Cov.: 32 AF XY: 0.0805 AC XY: 5987AN XY: 74386
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at