rs11568357
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_003742.4(ABCB11):āc.616A>Gā(p.Ile206Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000483 in 1,605,438 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Synonymous variant affecting the same amino acid position (i.e. I206I) has been classified as Likely benign.
Frequency
Consequence
NM_003742.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCB11 | NM_003742.4 | c.616A>G | p.Ile206Val | missense_variant | 8/28 | ENST00000650372.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCB11 | ENST00000650372.1 | c.616A>G | p.Ile206Val | missense_variant | 8/28 | NM_003742.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00274 AC: 417AN: 152120Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000617 AC: 147AN: 238334Hom.: 0 AF XY: 0.000488 AC XY: 63AN XY: 129062
GnomAD4 exome AF: 0.000247 AC: 359AN: 1453202Hom.: 2 Cov.: 30 AF XY: 0.000201 AC XY: 145AN XY: 722586
GnomAD4 genome AF: 0.00274 AC: 417AN: 152236Hom.: 0 Cov.: 32 AF XY: 0.00251 AC XY: 187AN XY: 74430
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Mar 21, 2016 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at