rs4148356
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_004996.4(ABCC1):c.2168G>A(p.Arg723Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0143 in 1,613,812 control chromosomes in the GnomAD database, including 404 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 Uncertain significance (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R723G) has been classified as Uncertain significance.
Frequency
Consequence
NM_004996.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCC1 | NM_004996.4 | c.2168G>A | p.Arg723Gln | missense_variant | 17/31 | ENST00000399410.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCC1 | ENST00000399410.8 | c.2168G>A | p.Arg723Gln | missense_variant | 17/31 | 1 | NM_004996.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0134 AC: 2039AN: 152130Hom.: 35 Cov.: 33
GnomAD3 exomes AF: 0.0235 AC: 5860AN: 249542Hom.: 164 AF XY: 0.0209 AC XY: 2828AN XY: 135392
GnomAD4 exome AF: 0.0144 AC: 20975AN: 1461562Hom.: 368 Cov.: 31 AF XY: 0.0140 AC XY: 10164AN XY: 727078
GnomAD4 genome AF: 0.0134 AC: 2043AN: 152250Hom.: 36 Cov.: 33 AF XY: 0.0144 AC XY: 1069AN XY: 74444
ClinVar
Submissions by phenotype
Familial cancer of breast Uncertain:1
Uncertain significance, no assertion criteria provided | research | Research Lab, National Institute of Public Health | Feb 01, 2014 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at