chr8-105788814-G-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_012082.4(ZFPM2):āc.629G>Cā(p.Ser210Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00321 in 1,613,990 control chromosomes in the GnomAD database, including 8 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_012082.4 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: 0.00267 AC: 407AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00232 AC: 579AN: 249184Hom.: 1 AF XY: 0.00219 AC XY: 296AN XY: 135188
GnomAD4 exome AF: 0.00326 AC: 4772AN: 1461688Hom.: 8 Cov.: 31 AF XY: 0.00310 AC XY: 2257AN XY: 727126
GnomAD4 genome AF: 0.00267 AC: 407AN: 152302Hom.: 0 Cov.: 32 AF XY: 0.00236 AC XY: 176AN XY: 74466
ClinVar
Submissions by phenotype
not specified Benign:2
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not provided Benign:2
ZFPM2: BP4, BS1, BS2 -
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46,XY sex reversal 9 Benign:1
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46,XY sex reversal 3 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at