18-9522340-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_006788.4(RALBP1):c.884C>T(p.Thr295Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000178 in 1,613,830 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_006788.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RALBP1 | NM_006788.4 | c.884C>T | p.Thr295Met | missense_variant | 4/10 | ENST00000383432.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RALBP1 | ENST00000383432.8 | c.884C>T | p.Thr295Met | missense_variant | 4/10 | 1 | NM_006788.4 | P1 | |
RALBP1 | ENST00000019317.8 | c.884C>T | p.Thr295Met | missense_variant | 4/10 | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000118 AC: 18AN: 152182Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000860 AC: 216AN: 251192Hom.: 1 AF XY: 0.000604 AC XY: 82AN XY: 135756
GnomAD4 exome AF: 0.000185 AC: 270AN: 1461648Hom.: 2 Cov.: 31 AF XY: 0.000143 AC XY: 104AN XY: 727132
GnomAD4 genome ? AF: 0.000118 AC: 18AN: 152182Hom.: 1 Cov.: 33 AF XY: 0.000108 AC XY: 8AN XY: 74328
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jul 06, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at