16-16221807-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001171.6(ABCC6):c.61C>T(p.Pro21Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,244 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Consequence
NM_001171.6 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 | UniProt |
---|---|---|---|---|---|---|---|
ABCC6 | NM_001171.6 | c.61C>T | p.Pro21Ser | missense_variant | 2/31 | ENST00000205557.12 | |
ABCC6 | NM_001079528.4 | c.61C>T | p.Pro21Ser | missense_variant | 2/2 | ||
ABCC6 | NM_001351800.1 | c.-313C>T | 5_prime_UTR_variant | 2/31 | |||
ABCC6 | NR_147784.1 | n.98C>T | non_coding_transcript_exon_variant | 2/29 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCC6 | ENST00000205557.12 | c.61C>T | p.Pro21Ser | missense_variant | 2/31 | 1 | NM_001171.6 | P1 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461244Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 726926
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
Autosomal recessive inherited pseudoxanthoma elasticum Uncertain:1
Uncertain significance, no assertion criteria provided | research | PXE International | Feb 16, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at