rs1143674
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_000885.6(ITGA4):c.1845A>C(p.Thr615=) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000188 in 1,597,308 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 2/2 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000885.6 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ITGA4 | NM_000885.6 | c.1845A>C | p.Thr615= | splice_region_variant, synonymous_variant | 16/28 | ENST00000397033.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ITGA4 | ENST00000397033.7 | c.1845A>C | p.Thr615= | splice_region_variant, synonymous_variant | 16/28 | 1 | NM_000885.6 | P1 | |
ITGA4 | ENST00000476824.1 | n.356A>C | splice_region_variant, non_coding_transcript_exon_variant | 2/8 | 1 | ||||
ITGA4 | ENST00000490435.5 | n.647A>C | splice_region_variant, non_coding_transcript_exon_variant | 2/3 | 5 | ||||
ITGA4 | ENST00000233573.6 | downstream_gene_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 151896Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000417 AC: 1AN: 239792Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 129998
GnomAD4 exome AF: 6.92e-7 AC: 1AN: 1445412Hom.: 0 Cov.: 28 AF XY: 0.00 AC XY: 0AN XY: 719222
GnomAD4 genome ? AF: 0.0000132 AC: 2AN: 151896Hom.: 0 Cov.: 31 AF XY: 0.0000270 AC XY: 2AN XY: 74180
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at