rs1462269230
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM1BP4_Moderate
The ENST00000205557.12(ABCC6):c.4324G>T(p.Ala1442Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000434 in 1,613,406 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A1442T) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000205557.12 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ABCC6 | NM_001171.6 | c.4324G>T | p.Ala1442Ser | missense_variant | 30/31 | ENST00000205557.12 | NP_001162.5 | |
ABCC6 | NM_001351800.1 | c.3982G>T | p.Ala1328Ser | missense_variant | 30/31 | NP_001338729.1 | ||
ABCC6 | NR_147784.1 | n.3986G>T | non_coding_transcript_exon_variant | 28/29 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ABCC6 | ENST00000205557.12 | c.4324G>T | p.Ala1442Ser | missense_variant | 30/31 | 1 | NM_001171.6 | ENSP00000205557 | P1 | |
ABCC6 | ENST00000456970.6 | c.*1333G>T | 3_prime_UTR_variant, NMD_transcript_variant | 28/29 | 2 | ENSP00000405002 | ||||
ABCC6 | ENST00000622290.5 | c.*496G>T | 3_prime_UTR_variant, NMD_transcript_variant | 31/32 | 5 | ENSP00000483331 |
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152254Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000804 AC: 2AN: 248604Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134668
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461152Hom.: 0 Cov.: 34 AF XY: 0.00000275 AC XY: 2AN XY: 726822
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152254Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74390
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at