NM_004300.4:c.21G>T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_004300.4(ACP1):c.21G>T(p.Lys7Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00098 in 1,613,176 control chromosomes in the GnomAD database, including 16 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_004300.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00522 AC: 795AN: 152230Hom.: 8 Cov.: 33
GnomAD3 exomes AF: 0.00123 AC: 305AN: 248940Hom.: 1 AF XY: 0.000979 AC XY: 132AN XY: 134798
GnomAD4 exome AF: 0.000527 AC: 770AN: 1460830Hom.: 6 Cov.: 31 AF XY: 0.000477 AC XY: 347AN XY: 726752
GnomAD4 genome AF: 0.00532 AC: 811AN: 152346Hom.: 10 Cov.: 33 AF XY: 0.00532 AC XY: 396AN XY: 74490
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at