rs2295612
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_003037.5(SLAMF1):c.33C>T(p.Phe11=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000498 in 1,605,140 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.
Frequency
Consequence
NM_003037.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLAMF1 | NM_003037.5 | c.33C>T | p.Phe11= | synonymous_variant | 1/7 | ENST00000302035.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLAMF1 | ENST00000302035.11 | c.33C>T | p.Phe11= | synonymous_variant | 1/7 | 1 | NM_003037.5 | P1 | |
SLAMF1 | ENST00000538290.2 | c.33C>T | p.Phe11= | synonymous_variant | 1/8 | 1 | |||
SLAMF1 | ENST00000494463.1 | n.109C>T | non_coding_transcript_exon_variant | 1/2 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 152044Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000806 AC: 2AN: 248184Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134086
GnomAD4 exome AF: 0.00000482 AC: 7AN: 1453096Hom.: 0 Cov.: 27 AF XY: 0.00000553 AC XY: 4AN XY: 723352
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 152044Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74258
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at