NM_005257.6:c.43G>C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_005257.6(GATA6):āc.43G>Cā(p.Gly15Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0066 in 1,599,730 control chromosomes in the GnomAD database, including 299 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_005257.6 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: 0.0235 AC: 3569AN: 151908Hom.: 115 Cov.: 32
GnomAD3 exomes AF: 0.0139 AC: 3196AN: 229324Hom.: 71 AF XY: 0.0107 AC XY: 1367AN XY: 127278
GnomAD4 exome AF: 0.00483 AC: 6987AN: 1447704Hom.: 184 Cov.: 31 AF XY: 0.00431 AC XY: 3110AN XY: 720816
GnomAD4 genome AF: 0.0235 AC: 3574AN: 152026Hom.: 115 Cov.: 32 AF XY: 0.0223 AC XY: 1660AN XY: 74312
ClinVar
Submissions by phenotype
not provided Benign:5
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not specified Benign:3
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Monogenic diabetes Benign:1
ACMG criteria: BA1 (6.8% MAF in gnomAD Africans, 4.5% in Asians, 4% in Latinos, overall 1.5%)= benign (REVEL 0.502+3 predictors benign+7 predictors pathogenic= conflicting evidence, not using) -
GATA6-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Atrioventricular septal defect 5 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at