rs28364274
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001348946.2(ABCB1):c.3751G>A(p.Val1251Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00163 in 1,614,050 control chromosomes in the GnomAD database, including 68 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_001348946.2 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ABCB1 | NM_001348946.2 | c.3751G>A | p.Val1251Ile | missense_variant | 28/28 | ENST00000622132.5 | NP_001335875.1 | |
ABCB1 | NM_001348945.2 | c.3961G>A | p.Val1321Ile | missense_variant | 32/32 | NP_001335874.1 | ||
ABCB1 | NM_000927.5 | c.3751G>A | p.Val1251Ile | missense_variant | 29/29 | NP_000918.2 | ||
ABCB1 | NM_001348944.2 | c.3751G>A | p.Val1251Ile | missense_variant | 30/30 | NP_001335873.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00474 AC: 722AN: 152230Hom.: 32 Cov.: 32
GnomAD3 exomes AF: 0.00468 AC: 1177AN: 251374Hom.: 22 AF XY: 0.00365 AC XY: 496AN XY: 135860
GnomAD4 exome AF: 0.00130 AC: 1903AN: 1461702Hom.: 36 Cov.: 31 AF XY: 0.00117 AC XY: 853AN XY: 727146
GnomAD4 genome AF: 0.00476 AC: 725AN: 152348Hom.: 32 Cov.: 32 AF XY: 0.00595 AC XY: 443AN XY: 74498
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jul 25, 2018 | - - |
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at