NM_177532.5:c.863A>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_177532.5(RASSF6):c.863A>T(p.His288Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000007 in 1,428,264 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_177532.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RASSF6 | ENST00000307439.10 | c.863A>T | p.His288Leu | missense_variant | Exon 10 of 11 | 1 | NM_177532.5 | ENSP00000303877.5 | ||
RASSF6 | ENST00000335049.5 | c.827A>T | p.His276Leu | missense_variant | Exon 9 of 10 | 1 | ENSP00000335582.5 | |||
RASSF6 | ENST00000395777.6 | c.761A>T | p.His254Leu | missense_variant | Exon 9 of 10 | 1 | ENSP00000379123.2 | |||
RASSF6 | ENST00000342081.7 | c.959A>T | p.His320Leu | missense_variant | Exon 10 of 11 | 2 | ENSP00000340578.3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.00e-7 AC: 1AN: 1428264Hom.: 0 Cov.: 28 AF XY: 0.00000141 AC XY: 1AN XY: 707724
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.959A>T (p.H320L) alteration is located in exon 10 (coding exon 10) of the RASSF6 gene. This alteration results from a A to T substitution at nucleotide position 959, causing the histidine (H) at amino acid position 320 to be replaced by a leucine (L). 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.