chr7-127595349-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020369.3(FSCN3):c.187G>A(p.Val63Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000167 in 1,613,814 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020369.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FSCN3 | NM_020369.3 | c.187G>A | p.Val63Met | missense_variant | 2/7 | ENST00000265825.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FSCN3 | ENST00000265825.6 | c.187G>A | p.Val63Met | missense_variant | 2/7 | 1 | NM_020369.3 | P1 | |
FSCN3 | ENST00000478328.1 | n.586G>A | non_coding_transcript_exon_variant | 2/2 | 1 | ||||
FSCN3 | ENST00000478821.1 | c.-216G>A | 5_prime_UTR_variant | 2/3 | 5 | ||||
FSCN3 | ENST00000421705.1 | c.*208G>A | 3_prime_UTR_variant, NMD_transcript_variant | 4/4 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152166Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000362 AC: 9AN: 248614Hom.: 0 AF XY: 0.0000446 AC XY: 6AN XY: 134500
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461648Hom.: 0 Cov.: 33 AF XY: 0.0000151 AC XY: 11AN XY: 727114
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152166Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74314
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 16, 2021 | The c.187G>A (p.V63M) alteration is located in exon 2 (coding exon 2) of the FSCN3 gene. This alteration results from a G to A substitution at nucleotide position 187, causing the valine (V) at amino acid position 63 to be replaced by a methionine (M). 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