rs17850527
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006713.4(SUB1):āc.31A>Gā(p.Ser11Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,460,880 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. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_006713.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SUB1 | NM_006713.4 | c.31A>G | p.Ser11Gly | missense_variant | 2/5 | ENST00000265073.9 | |
SUB1 | XM_011513944.4 | c.31A>G | p.Ser11Gly | missense_variant | 3/6 | ||
SUB1 | XM_047416661.1 | c.31A>G | p.Ser11Gly | missense_variant | 3/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SUB1 | ENST00000265073.9 | c.31A>G | p.Ser11Gly | missense_variant | 2/5 | 1 | NM_006713.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460880Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 726760
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at