chr2-168923754-G-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_003742.4(ABCB11):c.3834C>A(p.Ser1278=) 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. S1278S) has been classified as Uncertain significance.
Frequency
Consequence
NM_003742.4 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 |
---|---|---|---|---|---|---|---|
ABCB11 | NM_003742.4 | c.3834C>A | p.Ser1278= | synonymous_variant | 28/28 | ENST00000650372.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCB11 | ENST00000650372.1 | c.3834C>A | p.Ser1278= | synonymous_variant | 28/28 | NM_003742.4 | P1 | ||
ABCB11 | ENST00000649448.1 | c.2211C>A | p.Ser737= | synonymous_variant | 15/15 | ||||
ABCB11 | ENST00000648875.1 | c.226+903C>A | intron_variant | ||||||
ABCB11 | ENST00000439188.1 | c.*2232C>A | 3_prime_UTR_variant, NMD_transcript_variant | 15/15 | 2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at