rs72657689
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM1BP6
The NM_001171.6(ABCC6):c.2848G>A(p.Ala950Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000301 in 1,579,638 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A950V) has been classified as Likely benign.
Frequency
Consequence
NM_001171.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCC6 | NM_001171.6 | c.2848G>A | p.Ala950Thr | missense_variant | 22/31 | ENST00000205557.12 | |
ABCC6 | NM_001351800.1 | c.2506G>A | p.Ala836Thr | missense_variant | 22/31 | ||
ABCC6 | NR_147784.1 | n.2710G>A | non_coding_transcript_exon_variant | 21/29 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCC6 | ENST00000205557.12 | c.2848G>A | p.Ala950Thr | missense_variant | 22/31 | 1 | NM_001171.6 | P1 | |
ABCC6 | ENST00000622290.5 | c.2848G>A | p.Ala950Thr | missense_variant, NMD_transcript_variant | 22/32 | 5 | |||
ABCC6 | ENST00000456970.6 | c.*57G>A | 3_prime_UTR_variant, NMD_transcript_variant | 21/29 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000361 AC: 55AN: 152194Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000551 AC: 104AN: 188620Hom.: 0 AF XY: 0.000562 AC XY: 57AN XY: 101428
GnomAD4 exome AF: 0.000294 AC: 419AN: 1427326Hom.: 1 Cov.: 33 AF XY: 0.000320 AC XY: 226AN XY: 706934
GnomAD4 genome AF: 0.000368 AC: 56AN: 152312Hom.: 0 Cov.: 33 AF XY: 0.000376 AC XY: 28AN XY: 74470
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:2
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Apr 01, 2022 | - - |
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Jan 13, 2020 | This variant is associated with the following publications: (PMID: 17617515, 23485117) - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 27, 2024 | - - |
Autosomal recessive inherited pseudoxanthoma elasticum Uncertain:1Benign:1
Uncertain significance, no assertion criteria provided | research | PXE International | Mar 01, 2021 | - - |
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Dec 05, 2021 | - - |
Pseudoxanthoma elasticum, forme fruste Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Dec 05, 2021 | - - |
Arterial calcification, generalized, of infancy, 2 Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Dec 05, 2021 | - - |
ABCC6-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Aug 08, 2019 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at