rs11903757
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007088698.1(LOC124908062):n.365-10898T>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 0.157 in 152,074 control chromosomes in the GnomAD database, including 2,052 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
XR_007088698.1 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 |
---|---|---|---|---|---|---|---|
LOC124908062 | XR_007088698.1 | n.365-10898T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NABP1 | ENST00000674262.1 | c.*7815+12695T>C | intron_variant, NMD_transcript_variant | ||||||
NABP1 | ENST00000674360.1 | c.*7649-13438T>C | intron_variant, NMD_transcript_variant | ||||||
NABP1 | ENST00000674406.1 | c.*7815+12695T>C | intron_variant, NMD_transcript_variant | ||||||
NABP1 | ENST00000674414.1 | c.*7649-13438T>C | intron_variant, NMD_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.157 AC: 23852AN: 151956Hom.: 2050 Cov.: 32
GnomAD4 genome ? AF: 0.157 AC: 23871AN: 152074Hom.: 2052 Cov.: 32 AF XY: 0.160 AC XY: 11927AN XY: 74330
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at