9-83290671-T-C
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_174938.6(FRMD3):c.1127A>G(p.Asn376Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000287 in 1,461,688 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_174938.6 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FRMD3 | ENST00000304195.8 | c.1127A>G | p.Asn376Ser | missense_variant | Exon 13 of 14 | 1 | NM_174938.6 | ENSP00000303508.3 | ||
FRMD3 | ENST00000621208.4 | c.995A>G | p.Asn332Ser | missense_variant | Exon 13 of 14 | 1 | ENSP00000484839.1 | |||
FRMD3 | ENST00000376434.5 | c.545A>G | p.Asn182Ser | missense_variant | Exon 8 of 10 | 1 | ENSP00000365617.1 | |||
FRMD3 | ENST00000376438.5 | c.1127A>G | p.Asn376Ser | missense_variant | Exon 13 of 15 | 2 | ENSP00000365621.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD2 exomes AF: 0.0000161 AC: 4AN: 249136 AF XY: 0.00000740 show subpopulations
GnomAD4 exome AF: 0.0000287 AC: 42AN: 1461688Hom.: 0 Cov.: 31 AF XY: 0.0000234 AC XY: 17AN XY: 727150 show subpopulations
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1127A>G (p.N376S) alteration is located in exon 1 (coding exon 1) of the FRMD3 gene. This alteration results from a A to G substitution at nucleotide position 1127, causing the asparagine (N) at amino acid position 376 to be replaced by a serine (S). 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