chr1-152350656-G-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 2P and 16B. PVS1_ModerateBP6_Very_StrongBA1
The NM_001014342.3(FLG2):c.7130C>A(p.Ser2377*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.182 in 1,613,920 control chromosomes in the GnomAD database, including 31,220 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001014342.3 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.216 AC: 32856AN: 151956Hom.: 4159 Cov.: 32
GnomAD3 exomes AF: 0.236 AC: 59311AN: 251198Hom.: 8416 AF XY: 0.231 AC XY: 31305AN XY: 135750
GnomAD4 exome AF: 0.178 AC: 260367AN: 1461846Hom.: 27054 Cov.: 36 AF XY: 0.180 AC XY: 130810AN XY: 727220
GnomAD4 genome AF: 0.216 AC: 32882AN: 152074Hom.: 4166 Cov.: 32 AF XY: 0.222 AC XY: 16506AN XY: 74336
ClinVar
Submissions by phenotype
not provided Benign:2
This variant is associated with the following publications: (PMID: 24176758, 24608987, 24184149) -
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at