rs6732724
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000435643.1(ENSG00000224342):n.181+6709G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.427 in 151,868 control chromosomes in the GnomAD database, including 14,632 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000435643.1 | n.181+6709G>A | intron_variant, non_coding_transcript_variant | 4 | ||||||
MYOSLID | ENST00000666421.1 | n.78+14326G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.427 AC: 64811AN: 151750Hom.: 14636 Cov.: 31
GnomAD4 genome ? AF: 0.427 AC: 64821AN: 151868Hom.: 14632 Cov.: 31 AF XY: 0.433 AC XY: 32147AN XY: 74226
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at