NM_016069.11:c.291+7G>A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_016069.11(PAM16):c.291+7G>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 0.000000685 in 1,460,744 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_016069.11 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PAM16 | NM_016069.11 | c.291+7G>A | splice_region_variant, intron_variant | Intron 4 of 4 | ENST00000318059.8 | NP_057153.8 | ||
CORO7-PAM16 | NM_001201479.2 | c.3060+7G>A | splice_region_variant, intron_variant | Intron 30 of 30 | NP_001188408.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PAM16 | ENST00000318059.8 | c.291+7G>A | splice_region_variant, intron_variant | Intron 4 of 4 | 1 | NM_016069.11 | ENSP00000315693.3 | |||
CORO7-PAM16 | ENST00000572467.5 | c.3060+7G>A | splice_region_variant, intron_variant | Intron 30 of 30 | 2 | ENSP00000460885.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460744Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 726622
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.