14-51453104-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000697567.1(FRMD6-AS2):n.265-60055T>C 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 0.243 in 151,868 control chromosomes in the GnomAD database, including 4,776 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
Consequence
ENST00000697567.1 intron, non_coding_transcript
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 |
---|---|---|---|---|---|---|---|
FRMD6 | XM_047430921.1 | c.-290+20642A>G | intron_variant | ||||
FRMD6 | XM_047430922.1 | c.-290+20611A>G | intron_variant | ||||
FRMD6 | XM_047430926.1 | c.-393+20642A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FRMD6-AS2 | ENST00000697567.1 | n.265-60055T>C | intron_variant, non_coding_transcript_variant | ||||||
FRMD6-AS2 | ENST00000697566.1 | n.119-60055T>C | intron_variant, non_coding_transcript_variant | ||||||
FRMD6-AS2 | ENST00000697568.1 | n.260-55984T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.243 AC: 36865AN: 151750Hom.: 4782 Cov.: 31
GnomAD4 genome AF: 0.243 AC: 36874AN: 151868Hom.: 4776 Cov.: 31 AF XY: 0.243 AC XY: 18018AN XY: 74200
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at