chr14-51712487-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001267046.2(FRMD6):āc.785T>Cā(p.Leu262Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000007 in 1,429,416 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001267046.2 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 |
---|---|---|---|---|---|---|---|
FRMD6 | NM_001267046.2 | c.785T>C | p.Leu262Ser | missense_variant | 9/14 | ENST00000344768.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FRMD6 | ENST00000344768.10 | c.785T>C | p.Leu262Ser | missense_variant | 9/14 | 2 | NM_001267046.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 7.00e-7 AC: 1AN: 1429416Hom.: 0 Cov.: 27 AF XY: 0.00 AC XY: 0AN XY: 713036
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 09, 2023 | The c.761T>C (p.L254S) alteration is located in exon 10 (coding exon 8) of the FRMD6 gene. This alteration results from a T to C substitution at nucleotide position 761, causing the leucine (L) at amino acid position 254 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
Publications
No publications associated with this variant yet.