rs2967951
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XM_047417967.1(LOC124900940):c.26C>T(p.Thr9Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.193 in 152,144 control chromosomes in the GnomAD database, including 4,011 homozygotes. In-silico tool predicts a benign outcome for this variant. 5/5 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
XM_047417967.1 missense
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 |
---|---|---|---|---|---|---|---|
LOC124900940 | XM_047417967.1 | c.26C>T | p.Thr9Ile | missense_variant | 1/1 | ||
ROPN1L | NM_031916.5 | c.594-853C>T | intron_variant | ENST00000274134.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ROPN1L | ENST00000274134.5 | c.594-853C>T | intron_variant | 1 | NM_031916.5 | P1 | |||
ROPN1L | ENST00000503804.5 | c.594-853C>T | intron_variant | 2 | P1 | ||||
ROPN1L | ENST00000510520.5 | n.885+2636C>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.192 AC: 29226AN: 152026Hom.: 3987 Cov.: 33
GnomAD4 genome AF: 0.193 AC: 29295AN: 152144Hom.: 4011 Cov.: 33 AF XY: 0.200 AC XY: 14867AN XY: 74388
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at