rs1964428
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_131187.1(LOC105376360):n.162+143982A>G 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 0.332 in 152,024 control chromosomes in the GnomAD database, including 9,627 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
NR_131187.1 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 |
---|---|---|---|---|---|---|---|
LOC105376360 | NR_131187.1 | n.162+143982A>G | intron_variant, non_coding_transcript_variant | ||||
LINC02669 | NR_155743.1 | n.632-27860T>C | intron_variant, non_coding_transcript_variant | ||||
LOC124902538 | XR_007062362.1 | n.3056+10149A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC02669 | ENST00000660786.1 | n.645-27860T>C | intron_variant, non_coding_transcript_variant | ||||||
LINC02669 | ENST00000659295.1 | n.482-27860T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.332 AC: 50466AN: 151906Hom.: 9618 Cov.: 32
GnomAD4 genome ? AF: 0.332 AC: 50505AN: 152024Hom.: 9627 Cov.: 32 AF XY: 0.334 AC XY: 24837AN XY: 74326
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at