NM_020389.3:c.1921G>A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020389.3(TRPC7):c.1921G>A(p.Asp641Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000229 in 1,612,398 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020389.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152150Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000243 AC: 6AN: 246484Hom.: 0 AF XY: 0.0000225 AC XY: 3AN XY: 133622
GnomAD4 exome AF: 0.0000212 AC: 31AN: 1460248Hom.: 0 Cov.: 31 AF XY: 0.0000220 AC XY: 16AN XY: 726188
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152150Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1921G>A (p.D641N) alteration is located in exon 8 (coding exon 8) of the TRPC7 gene. This alteration results from a G to A substitution at nucleotide position 1921, causing the aspartic acid (D) at amino acid position 641 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at