1-153458959-T-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_002963.4(S100A7):āc.55A>Cā(p.Lys19Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00445 in 1,614,090 control chromosomes in the GnomAD database, including 22 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_002963.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00379 AC: 577AN: 152206Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00397 AC: 997AN: 251356Hom.: 2 AF XY: 0.00394 AC XY: 535AN XY: 135844
GnomAD4 exome AF: 0.00452 AC: 6605AN: 1461766Hom.: 20 Cov.: 34 AF XY: 0.00451 AC XY: 3277AN XY: 727188
GnomAD4 genome AF: 0.00379 AC: 578AN: 152324Hom.: 2 Cov.: 32 AF XY: 0.00342 AC XY: 255AN XY: 74488
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | May 01, 2023 | S100A7: BP4, BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at