chr20-3690126-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_023068.4(SIGLEC1):c.4730A>T(p.Gln1577Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000211 in 1,608,582 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_023068.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SIGLEC1 | NM_023068.4 | c.4730A>T | p.Gln1577Leu | missense_variant | 19/22 | ENST00000344754.6 | |
SIGLEC1 | NM_001367089.1 | c.4730A>T | p.Gln1577Leu | missense_variant | 18/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SIGLEC1 | ENST00000344754.6 | c.4730A>T | p.Gln1577Leu | missense_variant | 19/22 | 1 | NM_023068.4 | P2 | |
SIGLEC1 | ENST00000707083.1 | c.4730A>T | p.Gln1577Leu | missense_variant | 18/20 | A2 | |||
SIGLEC1 | ENST00000419548.4 | c.1172A>T | p.Gln391Leu | missense_variant | 5/5 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152184Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000126 AC: 3AN: 238074Hom.: 0 AF XY: 0.00000772 AC XY: 1AN XY: 129450
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1456280Hom.: 0 Cov.: 33 AF XY: 0.0000166 AC XY: 12AN XY: 723998
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152302Hom.: 0 Cov.: 33 AF XY: 0.000107 AC XY: 8AN XY: 74470
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 22, 2023 | The c.4730A>T (p.Q1577L) alteration is located in exon 18 (coding exon 18) of the SIGLEC1 gene. This alteration results from a A to T substitution at nucleotide position 4730, causing the glutamine (Q) at amino acid position 1577 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at