rs145887263
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_004722.4(AP4M1):c.740G>C(p.Gly247Ala) variant causes a missense change. The variant allele was found at a frequency of 0.000589 in 1,614,014 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. G247G) has been classified as Likely benign.
Frequency
Consequence
NM_004722.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AP4M1 | NM_004722.4 | c.740G>C | p.Gly247Ala | missense_variant | 10/15 | ENST00000359593.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AP4M1 | ENST00000359593.9 | c.740G>C | p.Gly247Ala | missense_variant | 10/15 | 1 | NM_004722.4 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.000716 AC: 109AN: 152136Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00111 AC: 279AN: 251486Hom.: 3 AF XY: 0.00110 AC XY: 149AN XY: 135918
GnomAD4 exome AF: 0.000576 AC: 842AN: 1461878Hom.: 5 Cov.: 33 AF XY: 0.000584 AC XY: 425AN XY: 727240
GnomAD4 genome ? AF: 0.000716 AC: 109AN: 152136Hom.: 1 Cov.: 32 AF XY: 0.000713 AC XY: 53AN XY: 74320
ClinVar
Submissions by phenotype
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jul 01, 2022 | AP4M1: BS2 - |
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 10, 2020 | This variant is associated with the following publications: (PMID: 26544806) - |
Hereditary spastic paraplegia 50 Benign:2
Likely benign, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Jan 03, 2022 | - - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 01, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at