3-132601238-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016557.4(ACKR4):āc.841A>Gā(p.Met281Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000216 in 1,613,736 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M281T) has been classified as Uncertain significance.
Frequency
Consequence
NM_016557.4 missense
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 |
---|---|---|---|---|---|---|---|
ACKR4 | NM_016557.4 | c.841A>G | p.Met281Val | missense_variant | 2/2 | ENST00000249887.3 | |
ACAD11 | NM_032169.5 | c.1621+1991T>C | intron_variant | ENST00000264990.11 | |||
NPHP3-ACAD11 | NR_037804.1 | n.5623+1991T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACKR4 | ENST00000249887.3 | c.841A>G | p.Met281Val | missense_variant | 2/2 | 1 | NM_016557.4 | P1 | |
ACAD11 | ENST00000264990.11 | c.1621+1991T>C | intron_variant | 1 | NM_032169.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152180Hom.: 0 Cov.: 29
GnomAD4 exome AF: 0.000227 AC: 332AN: 1461556Hom.: 0 Cov.: 32 AF XY: 0.000230 AC XY: 167AN XY: 727090
GnomAD4 genome AF: 0.000105 AC: 16AN: 152180Hom.: 0 Cov.: 29 AF XY: 0.0000942 AC XY: 7AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 17, 2021 | The c.841A>G (p.M281V) alteration is located in exon 1 (coding exon 1) of the ACKR4 gene. This alteration results from a A to G substitution at nucleotide position 841, causing the methionine (M) at amino acid position 281 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at