rs3796504
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_003037.5(SLAMF1):c.997C>A(p.Pro333Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0803 in 1,611,012 control chromosomes in the GnomAD database, including 5,787 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. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_003037.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLAMF1 | NM_003037.5 | c.997C>A | p.Pro333Thr | missense_variant | 7/7 | ENST00000302035.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLAMF1 | ENST00000302035.11 | c.997C>A | p.Pro333Thr | missense_variant | 7/7 | 1 | NM_003037.5 | P1 | |
SLAMF1 | ENST00000538290.2 | downstream_gene_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0615 AC: 9363AN: 152186Hom.: 382 Cov.: 33
GnomAD3 exomes AF: 0.0699 AC: 17536AN: 251018Hom.: 819 AF XY: 0.0713 AC XY: 9669AN XY: 135650
GnomAD4 exome AF: 0.0822 AC: 119946AN: 1458708Hom.: 5407 Cov.: 29 AF XY: 0.0819 AC XY: 59451AN XY: 725792
GnomAD4 genome ? AF: 0.0614 AC: 9355AN: 152304Hom.: 380 Cov.: 33 AF XY: 0.0607 AC XY: 4519AN XY: 74470
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at