19-51528229-C-T
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_001245.7(SIGLEC6):c.1037G>A(p.Gly346Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000482 in 1,614,152 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001245.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SIGLEC6 | NM_001245.7 | c.1037G>A | p.Gly346Asp | missense_variant | Exon 6 of 8 | ENST00000425629.8 | NP_001236.4 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00251 AC: 382AN: 152192Hom.: 2 Cov.: 31
GnomAD3 exomes AF: 0.000565 AC: 141AN: 249560Hom.: 0 AF XY: 0.000384 AC XY: 52AN XY: 135390
GnomAD4 exome AF: 0.000271 AC: 396AN: 1461842Hom.: 0 Cov.: 31 AF XY: 0.000209 AC XY: 152AN XY: 727226
GnomAD4 genome AF: 0.00251 AC: 382AN: 152310Hom.: 2 Cov.: 31 AF XY: 0.00251 AC XY: 187AN XY: 74472
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at