rs987187
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong
The ENST00000422554.2(ENSG00000223716):n.155-111T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0 ( 0 hom., cov: 32)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
ENSG00000223716
ENST00000422554.2 intron
ENST00000422554.2 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.472
Publications
3 publications found
Genes affected
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Likely_benign. The variant received -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.84).
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| LOC107987065 | XR_001746668.2 | n.369-76T>A | intron_variant | Intron 2 of 3 | ||||
| LOC107987065 | XR_001746669.2 | n.269-76T>A | intron_variant | Intron 3 of 4 | ||||
| LOC107987065 | XR_001746670.2 | n.368+2241T>A | intron_variant | Intron 2 of 2 | ||||
| LOC105376040 | XR_929605.1 | n.321+55A>T | intron_variant | Intron 2 of 3 |
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| ENSG00000223716 | ENST00000422554.2 | n.155-111T>A | intron_variant | Intron 2 of 3 | 3 |
Frequencies
GnomAD3 genomes 0.00 AC: 0AN: 152098Hom.: 0 Cov.: 32
GnomAD3 genomes
AF:
AC:
0
AN:
152098
Hom.:
Cov.:
32
Gnomad AFR
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Gnomad AMI
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Gnomad AMR
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Gnomad ASJ
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Gnomad EAS
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Gnomad SAS
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Gnomad FIN
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Gnomad NFE
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Gnomad OTH
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GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 12Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 8
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
12
Hom.:
AF XY:
AC XY:
0
AN XY:
8
African (AFR)
AF:
AC:
0
AN:
2
American (AMR)
AF:
AC:
0
AN:
2
Ashkenazi Jewish (ASJ)
AC:
0
AN:
0
East Asian (EAS)
AC:
0
AN:
0
South Asian (SAS)
AC:
0
AN:
0
European-Finnish (FIN)
AF:
AC:
0
AN:
2
Middle Eastern (MID)
AC:
0
AN:
0
European-Non Finnish (NFE)
AF:
AC:
0
AN:
4
Other (OTH)
AF:
AC:
0
AN:
2
GnomAD4 genome 0.00 AC: 0AN: 152098Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74292
GnomAD4 genome
Data not reliable, filtered out with message: AC0
AF:
AC:
0
AN:
152098
Hom.:
Cov.:
32
AF XY:
AC XY:
0
AN XY:
74292
African (AFR)
AF:
AC:
0
AN:
41396
American (AMR)
AF:
AC:
0
AN:
15278
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
3470
East Asian (EAS)
AF:
AC:
0
AN:
5186
South Asian (SAS)
AF:
AC:
0
AN:
4830
European-Finnish (FIN)
AF:
AC:
0
AN:
10612
Middle Eastern (MID)
AF:
AC:
0
AN:
316
European-Non Finnish (NFE)
AF:
AC:
0
AN:
68010
Other (OTH)
AF:
AC:
0
AN:
2088
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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