chr7-151033645-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_007188.5(ABCB8):c.136G>A(p.Val46Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000731 in 1,601,348 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_007188.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCB8 | NM_007188.5 | c.136G>A | p.Val46Met | missense_variant | 2/16 | ENST00000358849.9 | |
ABCB8 | NM_001282291.2 | c.187G>A | p.Val63Met | missense_variant | 3/17 | ||
ABCB8 | NM_001282292.2 | c.136G>A | p.Val46Met | missense_variant | 2/16 | ||
ABCB8 | NM_001282293.2 | c.145-628G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCB8 | ENST00000358849.9 | c.136G>A | p.Val46Met | missense_variant | 2/16 | 1 | NM_007188.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152170Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000660 AC: 16AN: 242522Hom.: 0 AF XY: 0.0000609 AC XY: 8AN XY: 131396
GnomAD4 exome AF: 0.0000759 AC: 110AN: 1449060Hom.: 0 Cov.: 30 AF XY: 0.0000709 AC XY: 51AN XY: 719098
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152288Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74454
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 14, 2022 | The c.136G>A (p.V46M) alteration is located in exon 2 (coding exon 2) of the ABCB8 gene. This alteration results from a G to A substitution at nucleotide position 136, causing the valine (V) at amino acid position 46 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at