chr20-62860142-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_006602.4(TCFL5):āc.814A>Gā(p.Asn272Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0837 in 1,608,502 control chromosomes in the GnomAD database, including 6,760 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_006602.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.117 AC: 17794AN: 152154Hom.: 1316 Cov.: 32
GnomAD3 exomes AF: 0.0894 AC: 22422AN: 250922Hom.: 1267 AF XY: 0.0873 AC XY: 11844AN XY: 135598
GnomAD4 exome AF: 0.0802 AC: 116759AN: 1456230Hom.: 5444 Cov.: 31 AF XY: 0.0801 AC XY: 57969AN XY: 723368
GnomAD4 genome AF: 0.117 AC: 17817AN: 152272Hom.: 1316 Cov.: 32 AF XY: 0.114 AC XY: 8498AN XY: 74462
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at