chr16-16036477-T-C
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_004996.4(ABCC1):āc.683T>Cā(p.Ile228Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000294 in 1,460,372 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I228V) has been classified as Uncertain significance.
Frequency
Consequence
NM_004996.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCC1 | NM_004996.4 | c.683T>C | p.Ile228Thr | missense_variant | 7/31 | ENST00000399410.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCC1 | ENST00000399410.8 | c.683T>C | p.Ile228Thr | missense_variant | 7/31 | 1 | NM_004996.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000849 AC: 21AN: 247440Hom.: 0 AF XY: 0.0000819 AC XY: 11AN XY: 134274
GnomAD4 exome AF: 0.0000294 AC: 43AN: 1460372Hom.: 0 Cov.: 31 AF XY: 0.0000262 AC XY: 19AN XY: 726474
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 27, 2024 | The c.683T>C (p.I228T) alteration is located in exon 7 (coding exon 7) of the ABCC1 gene. This alteration results from a T to C substitution at nucleotide position 683, causing the isoleucine (I) at amino acid position 228 to be replaced by a threonine (T). 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