2-197400802-A-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_012433.4(SF3B1):c.2631T>A(p.Gly877=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G877G) has been classified as Benign.
Frequency
Consequence
NM_012433.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SF3B1 | NM_012433.4 | c.2631T>A | p.Gly877= | synonymous_variant | 18/25 | ENST00000335508.11 | |
SF3B1 | XM_047443838.1 | c.2193T>A | p.Gly731= | synonymous_variant | 15/22 | ||
SF3B1 | XM_047443839.1 | c.2193T>A | p.Gly731= | synonymous_variant | 15/22 | ||
SF3B1 | XM_047443840.1 | c.2631T>A | p.Gly877= | synonymous_variant | 18/22 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SF3B1 | ENST00000335508.11 | c.2631T>A | p.Gly877= | synonymous_variant | 18/25 | 1 | NM_012433.4 | P1 | |
SF3B1 | ENST00000470268.2 | n.4515T>A | non_coding_transcript_exon_variant | 17/24 | 2 | ||||
SF3B1 | ENST00000652026.1 | c.*3698T>A | 3_prime_UTR_variant, NMD_transcript_variant | 18/25 | |||||
SF3B1 | ENST00000652738.1 | c.*2890T>A | 3_prime_UTR_variant, NMD_transcript_variant | 19/26 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1460668Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 726756
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at