rs3811632
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006343.3(MERTK):c.1451-72G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000022 in 1,362,190 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
NM_006343.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MERTK | NM_006343.3 | c.1451-72G>A | intron_variant | ENST00000295408.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MERTK | ENST00000295408.9 | c.1451-72G>A | intron_variant | 1 | NM_006343.3 | P1 | |||
MERTK | ENST00000439966.5 | c.*924-72G>A | intron_variant, NMD_transcript_variant | 1 | |||||
MERTK | ENST00000409780.5 | c.923-72G>A | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251064Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135780
GnomAD4 exome AF: 0.00000220 AC: 3AN: 1362190Hom.: 0 Cov.: 22 AF XY: 0.00000146 AC XY: 1AN XY: 683504
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at