NM_197947.3:c.714T>G
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBA1
The NM_197947.3(CLEC7A):āc.714T>Gā(p.Tyr238*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0731 in 1,608,786 control chromosomes in the GnomAD database, including 4,901 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_197947.3 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CLEC7A | NM_197947.3 | c.714T>G | p.Tyr238* | stop_gained | Exon 6 of 6 | ENST00000304084.13 | NP_922938.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0549 AC: 8354AN: 152146Hom.: 310 Cov.: 32
GnomAD3 exomes AF: 0.0620 AC: 15565AN: 251140Hom.: 623 AF XY: 0.0652 AC XY: 8852AN XY: 135760
GnomAD4 exome AF: 0.0751 AC: 109324AN: 1456522Hom.: 4592 Cov.: 31 AF XY: 0.0761 AC XY: 55160AN XY: 724786
GnomAD4 genome AF: 0.0549 AC: 8357AN: 152264Hom.: 309 Cov.: 32 AF XY: 0.0538 AC XY: 4003AN XY: 74458
ClinVar
Submissions by phenotype
Familial chronic mucocutaneous candidiasis Pathogenic:1Benign:1
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not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF -
not provided Benign:1
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Familial chronic mucocutaneous candidiasis;C3279774:Aspergillosis, susceptibility to Benign:1
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CLEC7A-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Aspergillosis, susceptibility to Other:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at