rs28706727
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_004996.4(ABCC1):c.3436G>A(p.Val1146Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000976 in 1,614,204 control chromosomes in the GnomAD database, including 19 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_004996.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCC1 | NM_004996.4 | c.3436G>A | p.Val1146Ile | missense_variant | 24/31 | ENST00000399410.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCC1 | ENST00000399410.8 | c.3436G>A | p.Val1146Ile | missense_variant | 24/31 | 1 | NM_004996.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00486 AC: 740AN: 152194Hom.: 8 Cov.: 32
GnomAD3 exomes AF: 0.00127 AC: 316AN: 249320Hom.: 4 AF XY: 0.00109 AC XY: 148AN XY: 135308
GnomAD4 exome AF: 0.000568 AC: 831AN: 1461892Hom.: 11 Cov.: 32 AF XY: 0.000524 AC XY: 381AN XY: 727248
GnomAD4 genome ? AF: 0.00488 AC: 744AN: 152312Hom.: 8 Cov.: 32 AF XY: 0.00501 AC XY: 373AN XY: 74486
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jun 26, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at