16-16198014-G-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_001171.6(ABCC6):c.1338+7C>A variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000103 in 1,461,424 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001171.6 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCC6 | NM_001171.6 | c.1338+7C>A | splice_region_variant, intron_variant | ENST00000205557.12 | |||
ABCC6 | NM_001351800.1 | c.996+7C>A | splice_region_variant, intron_variant | ||||
ABCC6 | NR_147784.1 | n.1375+7C>A | splice_region_variant, intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCC6 | ENST00000205557.12 | c.1338+7C>A | splice_region_variant, intron_variant | 1 | NM_001171.6 | P1 | |||
ABCC6 | ENST00000574094.6 | c.1338+7C>A | splice_region_variant, intron_variant | 5 | |||||
ABCC6 | ENST00000456970.6 | c.1338+7C>A | splice_region_variant, intron_variant, NMD_transcript_variant | 2 | |||||
ABCC6 | ENST00000622290.5 | c.1338+7C>A | splice_region_variant, intron_variant, NMD_transcript_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 28
GnomAD3 exomes AF: 0.0000202 AC: 5AN: 248118Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134488
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461424Hom.: 0 Cov.: 50 AF XY: 0.00000825 AC XY: 6AN XY: 726974
GnomAD4 genome Cov.: 28
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Oct 13, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at