chr20-3691476-G-A
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Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_023068.4(SIGLEC1):c.4455C>T(p.Asp1485=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00335 in 1,613,472 control chromosomes in the GnomAD database, including 24 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.0027 ( 3 hom., cov: 33)
Exomes 𝑓: 0.0034 ( 21 hom. )
Consequence
SIGLEC1
NM_023068.4 synonymous
NM_023068.4 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.831
Genes affected
SIGLEC1 (HGNC:11127): (sialic acid binding Ig like lectin 1) This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manner. It is a type I transmembrane protein expressed only by a subpopulation of macrophages and is involved in mediating cell-cell interactions. The protein plays an important role in multiple human diseases and bacterial and viral infections has been shown to enhance SARS-CoV-2 infection. [provided by RefSeq, Dec 2021]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -11 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.54).
BP6
Variant 20-3691476-G-A is Benign according to our data. Variant chr20-3691476-G-A is described in ClinVar as [Likely_benign]. Clinvar id is 2652178.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
Synonymous conserved (PhyloP=0.831 with no splicing effect.
BS2
High Homozygotes in GnomAd4 at 3 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SIGLEC1 | NM_023068.4 | c.4455C>T | p.Asp1485= | synonymous_variant | 18/22 | ENST00000344754.6 | |
SIGLEC1 | NM_001367089.1 | c.4455C>T | p.Asp1485= | synonymous_variant | 17/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SIGLEC1 | ENST00000344754.6 | c.4455C>T | p.Asp1485= | synonymous_variant | 18/22 | 1 | NM_023068.4 | P2 | |
SIGLEC1 | ENST00000707083.1 | c.4455C>T | p.Asp1485= | synonymous_variant | 17/20 | A2 | |||
SIGLEC1 | ENST00000419548.4 | c.897C>T | p.Asp299= | synonymous_variant | 4/5 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00269 AC: 410AN: 152266Hom.: 3 Cov.: 33
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GnomAD3 exomes AF: 0.00355 AC: 891AN: 250664Hom.: 8 AF XY: 0.00381 AC XY: 517AN XY: 135696
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GnomAD4 exome AF: 0.00343 AC: 5005AN: 1461088Hom.: 21 Cov.: 33 AF XY: 0.00340 AC XY: 2471AN XY: 726846
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GnomAD4 genome AF: 0.00268 AC: 408AN: 152384Hom.: 3 Cov.: 33 AF XY: 0.00239 AC XY: 178AN XY: 74522
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Mar 01, 2023 | SIGLEC1: BP4, BP7, BS2 - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at