rs63750798
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM1PM2PP5
The NM_001171.6(ABCC6):c.4182G>T(p.Lys1394Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in Lovd as Pathogenic (no stars). Synonymous variant affecting the same amino acid position (i.e. K1394K) has been classified as Uncertain significance.
Frequency
Consequence
NM_001171.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCC6 | NM_001171.6 | c.4182G>T | p.Lys1394Asn | missense_variant | 29/31 | ENST00000205557.12 | |
ABCC6 | NM_001351800.1 | c.3840G>T | p.Lys1280Asn | missense_variant | 29/31 | ||
ABCC6 | NR_147784.1 | n.3844G>T | non_coding_transcript_exon_variant | 27/29 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCC6 | ENST00000205557.12 | c.4182G>T | p.Lys1394Asn | missense_variant | 29/31 | 1 | NM_001171.6 | P1 | |
ABCC6 | ENST00000456970.6 | c.*1191G>T | 3_prime_UTR_variant, NMD_transcript_variant | 27/29 | 2 | ||||
ABCC6 | ENST00000622290.5 | c.*354G>T | 3_prime_UTR_variant, NMD_transcript_variant | 30/32 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at