rs6743376
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_173161.3(IL1F10):c.152C>A(p.Ala51Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.669 in 1,611,940 control chromosomes in the GnomAD database, including 362,567 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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_173161.3 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 |
---|---|---|---|---|---|---|---|
IL1F10 | NM_173161.3 | c.152C>A | p.Ala51Asp | missense_variant | 4/5 | ENST00000341010.6 | |
IL1F10 | NM_032556.6 | c.152C>A | p.Ala51Asp | missense_variant | 3/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL1F10 | ENST00000341010.6 | c.152C>A | p.Ala51Asp | missense_variant | 4/5 | 1 | NM_173161.3 | P1 | |
IL1F10 | ENST00000393197.3 | c.152C>A | p.Ala51Asp | missense_variant | 3/4 | 1 | P1 | ||
IL1F10 | ENST00000496265.1 | n.218C>A | non_coding_transcript_exon_variant | 1/2 | 1 |
Frequencies
GnomAD3 genomes AF: 0.689 AC: 104642AN: 151946Hom.: 36282 Cov.: 32
GnomAD3 exomes AF: 0.695 AC: 174644AN: 251366Hom.: 61196 AF XY: 0.697 AC XY: 94717AN XY: 135842
GnomAD4 exome AF: 0.667 AC: 973100AN: 1459876Hom.: 326234 Cov.: 45 AF XY: 0.669 AC XY: 486182AN XY: 726338
GnomAD4 genome AF: 0.689 AC: 104751AN: 152064Hom.: 36333 Cov.: 32 AF XY: 0.691 AC XY: 51340AN XY: 74336
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at