rs7285549
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000609475.1(ENSG00000272977):n.2396A>C variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.225 in 151,954 control chromosomes in the GnomAD database, including 7,438 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 |
---|---|---|---|---|---|---|---|
LOC124905094 | XR_007068036.1 | n.4457A>C | non_coding_transcript_exon_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000609475.1 | n.2396A>C | non_coding_transcript_exon_variant | 1/1 | ||||||
CRYBB2P1 | ENST00000354451.6 | n.366+19098A>C | intron_variant, non_coding_transcript_variant | 1 | |||||
CRYBB2P1 | ENST00000686640.2 | n.573+19098A>C | intron_variant, non_coding_transcript_variant | ||||||
CRYBB2P1 | ENST00000509460.4 | n.568+19098A>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.224 AC: 34027AN: 151822Hom.: 7396 Cov.: 33
GnomAD4 exome AF: 0.0714 AC: 1AN: 14Hom.: 0 Cov.: 0 AF XY: 0.100 AC XY: 1AN XY: 10
GnomAD4 genome ? AF: 0.225 AC: 34138AN: 151940Hom.: 7438 Cov.: 33 AF XY: 0.222 AC XY: 16497AN XY: 74286
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at