rs6746899
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_110252.1(LOC101929452):n.343-283T>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 0.135 in 152,218 control chromosomes in the GnomAD database, including 1,445 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_110252.1 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 |
---|---|---|---|---|---|---|---|
LOC101929452 | NR_110252.1 | n.343-283T>C | intron_variant, non_coding_transcript_variant | ||||
RNF144A | NM_001349181.2 | c.748-9965A>G | intron_variant | ||||
RNF144A | NM_001349185.2 | c.748-5019A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000664324.1 | n.711+13685T>C | intron_variant, non_coding_transcript_variant | |||||||
RNF144A | ENST00000432850.1 | c.735-5019A>G | intron_variant | 3 | |||||
ENST00000415520.5 | n.343-283T>C | intron_variant, non_coding_transcript_variant | 4 | ||||||
ENST00000649356.2 | n.1010-283T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.135 AC: 20551AN: 152100Hom.: 1442 Cov.: 32
GnomAD4 genome ? AF: 0.135 AC: 20564AN: 152218Hom.: 1445 Cov.: 32 AF XY: 0.138 AC XY: 10255AN XY: 74424
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at