rs3746638
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_023068.4(SIGLEC1):c.2921C>T(p.Ala974Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.526 in 1,613,248 control chromosomes in the GnomAD database, including 226,070 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict 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_023068.4 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 |
---|---|---|---|---|---|---|---|
SIGLEC1 | NM_023068.4 | c.2921C>T | p.Ala974Val | missense_variant | 12/22 | ENST00000344754.6 | |
SIGLEC1 | NM_001367089.1 | c.2921C>T | p.Ala974Val | missense_variant | 11/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SIGLEC1 | ENST00000344754.6 | c.2921C>T | p.Ala974Val | missense_variant | 12/22 | 1 | NM_023068.4 | P2 | |
SIGLEC1 | ENST00000707083.1 | c.2921C>T | p.Ala974Val | missense_variant | 11/20 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.523 AC: 79503AN: 152034Hom.: 21165 Cov.: 33
GnomAD3 exomes AF: 0.575 AC: 144294AN: 250744Hom.: 42543 AF XY: 0.573 AC XY: 77727AN XY: 135570
GnomAD4 exome AF: 0.526 AC: 768539AN: 1461096Hom.: 204892 Cov.: 58 AF XY: 0.529 AC XY: 384603AN XY: 726842
GnomAD4 genome ? AF: 0.523 AC: 79551AN: 152152Hom.: 21178 Cov.: 33 AF XY: 0.534 AC XY: 39740AN XY: 74386
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at