rs2165668
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000509111.2(ENSG00000272297):c.145+21635A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000103 in 966,202 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
ENST00000509111.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC105377596 | XR_007058498.1 | n.143+8652T>A | intron_variant | Intron 2 of 2 | ||||
MTNR1A | NM_005958.4 | c.*142A>T | downstream_gene_variant | ENST00000307161.5 | NP_005949.1 | |||
MTNR1A | XM_011532002.4 | c.*142A>T | downstream_gene_variant | XP_011530304.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000272297 | ENST00000509111.2 | c.145+21635A>T | intron_variant | Intron 1 of 1 | 3 | ENSP00000422449.2 | ||||
MTNR1A | ENST00000703170 | c.*142A>T | 3_prime_UTR_variant | Exon 2 of 2 | ENSP00000515216.1 | |||||
MTNR1A | ENST00000307161.5 | c.*142A>T | downstream_gene_variant | 1 | NM_005958.4 | ENSP00000302811.5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000103 AC: 1AN: 966202Hom.: 0 AF XY: 0.00000202 AC XY: 1AN XY: 494820
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.