rs761150178
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_053003.4(SIGLEC12):āc.1576G>Cā(p.Ala526Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000479 in 1,461,698 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. A526T) has been classified as Uncertain significance.
Frequency
Consequence
NM_053003.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SIGLEC12 | ENST00000291707.8 | c.1576G>C | p.Ala526Pro | missense_variant | Exon 7 of 8 | 1 | NM_053003.4 | ENSP00000291707.3 | ||
SIGLEC12 | ENST00000596742.1 | n.*791G>C | non_coding_transcript_exon_variant | Exon 7 of 8 | 1 | ENSP00000469791.1 | ||||
SIGLEC12 | ENST00000596742.1 | n.*791G>C | 3_prime_UTR_variant | Exon 7 of 8 | 1 | ENSP00000469791.1 | ||||
SIGLEC12 | ENST00000598614.1 | c.1222G>C | p.Ala408Pro | missense_variant | Exon 6 of 7 | 5 | ENSP00000472873.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461698Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727154
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.